Materiały źródłowe

• #1 Porphyria | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/porphyria

  Porphyria can affect the skin, nervous system, gastrointestinal system or all of these, depending on the specific type. […] Currently, there is no cure, but medical treatment and lifestyle changes can usually manage the symptoms. […] Treatments are available to manage the symptoms. […] Be guided by your doctor, but general suggestions for preventing symptoms of porphyria include: In all cases avoid known triggers for example, dont smoke or drink alcohol. […] Treatment for acute porphyria may include: pain medication, addressing the underlying cause for example, prescribing antibiotics to treat an infection or ceasing a particular medication, medication called hematin, which is a type of heme the body can use, intravenous fluids and glucose, admission to hospital in severe cases. […] Treatment for cutaneous porphyria may include: oral administration of activated charcoal, which helps to absorb excess porphyrins, daily supplementation with beta-carotene (vitamin A) as part of long-term treatment, therapeutic phlebotomy a healthcare practitioner can remove blood to reduce iron concentration in the liver. […] If you or your child have been diagnosed with porphyria, or if it runs in your family, it may be helpful to speak to a genetic counsellor.

• #2 What Is Porphyria? | UPMC HealthBeat

  https://share.upmc.com/2023/01/what-is-porphyria/

  Porphyria is a group of genetic disorders that can affect the skin, nervous system, liver, and other organs. It occurs because of abnormalities in the bodys creation of the molecule heme. […] Porphyria is curable, but that typically involves a liver or bone marrow transplant. Because of that, treatment usually comes in the form of disease management. […] A major part of treating porphyria comes with avoiding triggers. Depending on your type of porphyria, triggers may include sunlight, certain medications, alcohol, and even dieting. If you have a disease that can trigger porphyria, like hepatitis C, treating that condition can also help manage porphyria. […] Because of these potential complications, getting a proper diagnosis and treatment is crucial. […] Theres no reason in the world for a person to have to suffer from this disorder as long as we can make the diagnosis, Dr. Smith says. And the only way that we can make the diagnosis is if people insist upon being evaluated, or at least have that discussion with their primary care provider. If you do have it, theres things that we can do about it. We have the ability to change peoples lives with this.

• #3 Diagnosis and management of porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1127427/

  Although porphyria is a relatively uncommon condition, it should be considered in patients presenting with an atypical medical, psychiatric, or surgical history. Acute attacks are associated with a substantial morbidity and mortality; there is a need for rapid and accurate diagnosis of the neuropsychiatric porphyrias, particularly because haem arginate can induce a definite remission if given early in an attack. Additionally, porphyrias may present with skin lesions or photosensitivity. […] Patients with porphyria should be referred to specialist centres and be advised to avoid precipitating factors, such as certain drugs. […] When a patient is diagnosed with an acute porphyria the whole family needs to be screened. […] Drug treatment should be prescribed only after reference to a drug list. Many such lists exist, but no list is universally accepted. Some drugs are generally agreed to be safe in acute porphyria; some are considered to be unsafe; and a large number of drugs may or may not be safe. For this last group of drugs, a commonsense assessment of benefit versus risk is needed; an acute attack is less likely to be precipitated if the disease is latent, if the patient has previously only had a single attack, and if the concentrations of urinary porphobilinogen and particularly of aminolaevulinic acid are normal at the time of prescribing the drug.

• #4 Diagnosis and management of porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1127427/

  Although porphyria is a relatively uncommon condition, it should be considered in patients presenting with an atypical medical, psychiatric, or surgical history. Acute attacks are associated with a substantial morbidity and mortality; there is a need for rapid and accurate diagnosis of the neuropsychiatric porphyrias, particularly because haem arginate can induce a definite remission if given early in an attack. Additionally, porphyrias may present with skin lesions or photosensitivity. […] Patients with porphyria should be referred to specialist centres and be advised to avoid precipitating factors, such as certain drugs. […] When a patient is diagnosed with an acute porphyria the whole family needs to be screened. […] Drug treatment should be prescribed only after reference to a drug list. Many such lists exist, but no list is universally accepted. Some drugs are generally agreed to be safe in acute porphyria; some are considered to be unsafe; and a large number of drugs may or may not be safe. For this last group of drugs, a commonsense assessment of benefit versus risk is needed; an acute attack is less likely to be precipitated if the disease is latent, if the patient has previously only had a single attack, and if the concentrations of urinary porphobilinogen and particularly of aminolaevulinic acid are normal at the time of prescribing the drug.

• #5 Treatment Options – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/treatment-options/

  The American Porphyria Foundation (APF) promotes comprehensive care necessary for treating individuals with Porphyria. […] Although there is no cure for Porphyria, there is treatment available for each type of the disease. […] Doctors administer Panhematin to correct heme deficiency in the liver and repress production of porphyrin precursors. […] Panhematin almost always normalizes porphyrin and porphyrin precursor values. […] Three to four mg/kg of Panhematin given once daily for four days early in an attack produces a highly beneficial effect in most patients. […] Commonly noted are decreases in pulse rate, blood pressure, abdominal pain, as well as decreased levels of urinary porphobilinogen (PBG). […] Today, physicians experienced in treating patients with attacks of Porphyria recommend early use of Panhematin rather than waiting to see if glucose alone will be of decisive help.

• #6 Porphyria | Condition | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/porphyria/

  At UT Southwestern Medical Center, our hepatologists provide comprehensive care for people with porphyria, a group of rare genetic blood disorders. […] Our team works quickly to diagnose the specific type of porphyria and help effectively treat the underlying causes of symptoms. […] As a rare disease, porphyria should be diagnosed and treated by a skilled specialist. We have experience evaluating porphyria patients and creating a treatment plan customized to each patients unique situation. In complicated cases, we work closely with UT Southwestern dermatologists to offer multidisciplinary care. […] Treatment for porphyria depends on the disease type. Our approach focuses on detecting and preventing symptom triggers and when they do occur, alleviating them. […] Reducing exposure to sunlight is an important part of cutaneous porphyria treatment. […] We might recommend certain treatments that ease symptoms by reducing the number of porphyrins in the body.

• #7 Porphyria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072

  Treatment of acute porphyria attacks focuses on providing fast treatment of symptoms and preventing complications. Treatment may include: Injections of hemin (Panhematin), a medicine that is a form of heme, to limit your body’s production of porphyrins. Receiving fluid that contains sugar, also called glucose, through a vein, or sugar taken by mouth, if able. This is done to make sure you get enough carbohydrates. A stay in the hospital for treatment of symptoms such as severe pain, vomiting, dehydration or breathing problems. […] Treatment of cutaneous porphyrias focuses on reducing exposure to triggers such as sunlight. It also includes reducing the amount of porphyrins in the body to help relieve symptoms. Reducing porphyrins may include: Regularly scheduled blood draws to reduce the iron in your body, which decreases porphyrins. This process is called phlebotomy. Taking a medicine used to treat malaria, usually hydroxychloroquine (Plaquenil). This can help absorb excess porphyrins and help your body get rid of them more quickly than usual. The medicine is generally used only in people who can’t tolerate phlebotomy. A dietary supplement to replace low vitamin D levels caused by avoiding sunlight.

• #8 Emergency Room Guidelines for Acute Porphyrias – American Porphyria Foundation

  https://porphyriafoundation.org/for-healthcare-professionals/emergency-room-guidelines-for-acute-porphyrias/

  The human porphyrias are clinical disorders reflecting defects in heme biosynthesis. […] Acute porphyrias cause acute attacks of neurological symptoms that can be life-threatening. […] Acute attacks are triggered by certain drugs, sex steroid hormones, reduced intake of calories and carbohydrate, alcohol and unknown factors. […] Many of these factors stimulate heme synthesis in the liver, which in the face of a metabolic enzyme defect, leads to increased production of heme precursors that may be neurotoxic. […] A high index of suspicion in the presence of nonspecific symptoms is important for diagnosis. […] A new diagnosis of porphyria as the cause of acute symptoms must be substantiated by finding a substantial increase in urine porphobilinogen (PBG). […] Treatment should start promptly after the diagnosis is made.

• #9 Porphyria | UCSF Department of Surgery

  https://pedsurg.ucsf.edu/condition/porphyria

  Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. […] Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms. […] A health care provider diagnoses porphyria with blood, urine, and stool tests. […] Symptoms of cutaneous porphyrias include oversensitivity to sunlight, blisters on exposed areas of the skin, and itching and swelling on exposed areas of the skin. […] Symptoms of acute porphyrias include pain in the abdomen, pain in the chest, limbs, or back, nausea and vomiting, constipation, urinary retention, confusion, hallucinations, seizures and muscle weakness. […] A health care provider treats acute porphyrias with heme or glucose loading to decrease the liver’s production of porphyrins and porphyrin precursors. […] The most important step a person can take to treat a cutaneous porphyria is to avoid sunlight as much as possible. […] A health care provider may recommend vitamin and mineral supplements for people with a cutaneous porphyria.

• #10 What Is Porphyria? Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17760-porphyria

  Healthcare providers can help you diagnose, manage and possibly prevent symptoms to lessen the impact of these conditions on your life. […] Treatment depends on the type of porphyria you have and how it affects you. Your provider will help you understand whats best in your unique situation. […] If you have acute porphyria, you may need care at a hospital when an attack occurs. At the hospital, providers will do one or more of the following: Give you medication (hemin infusion) to reduce ALA and PBG levels, Give you medications to manage pain, nausea and/or seizures, Give you IV fluids, Monitor your electrolyte levels and replenish as needed, Watch for any changes to your mental status. […] No matter the specific type of cutaneous porphyria you have, protecting your skin is vital to preventing symptoms. Sunscreen typically isnt enough. Ideally, you should avoid being in the sun at all. If you must do so, wear sun-protective clothing. Your provider can advise you on whats best.

• #11 Porphyria Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/porphyria

  Porphyria is inherited. This means the disorder is passed down through families. […] Some of the medicines used to treat a sudden (acute) attack of porphyria may include: Hematin given through a vein (intravenously), Pain medicine, Propranolol to control the heartbeat, Sedatives to help you feel calm and less anxious. […] Depending on the type of porphyria you have, your provider may tell you to: Avoid all alcohol, Avoid certain drugs that may trigger an attack, Avoid injuring the skin, Avoid sunlight as much as possible and use sunscreen when outside, Eat a high-carbohydrate diet. […] Get medical help as soon as you have signs of an acute attack. Talk to your provider about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight. […] Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.

• #12 Porphyria: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001208.htm

  Porphyria is inherited. This means the disorder is passed down through families. […] Your health care provider will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The provider may find that your deep tendon reflexes (knee jerks or others) do not work properly. […] Some of the medicines used to treat a sudden (acute) attack of porphyria may include: Hematin given through a vein (intravenously), Pain medicine, Propranolol to control the heartbeat, Sedatives to help you feel calm and less anxious. […] Depending on the type of porphyria you have, your provider may tell you to: Avoid all alcohol, Avoid certain drugs that may trigger an attack, Avoid injuring the skin, Avoid sunlight as much as possible and use sunscreen when outside, Eat a high-carbohydrate diet.

• #13 What Is Porphyria? Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17760-porphyria

  Healthcare providers can help you diagnose, manage and possibly prevent symptoms to lessen the impact of these conditions on your life. […] Treatment depends on the type of porphyria you have and how it affects you. Your provider will help you understand whats best in your unique situation. […] If you have acute porphyria, you may need care at a hospital when an attack occurs. At the hospital, providers will do one or more of the following: Give you medication (hemin infusion) to reduce ALA and PBG levels, Give you medications to manage pain, nausea and/or seizures, Give you IV fluids, Monitor your electrolyte levels and replenish as needed, Watch for any changes to your mental status. […] No matter the specific type of cutaneous porphyria you have, protecting your skin is vital to preventing symptoms. Sunscreen typically isnt enough. Ideally, you should avoid being in the sun at all. If you must do so, wear sun-protective clothing. Your provider can advise you on whats best.

• #14 Porphyria Cutanea Tarda and Agent Orange – Public Health

  https://www.publichealth.va.gov/exposures/agentorange/conditions/porphyria-cutanea-tarda.asp

  Porphyria cutanea tarda (PCT) is a disorder characterized by thinning and blistering of the skin in sun-exposed areas. […] Symptoms are: blisters on areas of the skin exposed to the sun such as the face, arms, and hands followed by crusting and scarring; hyperpigmentation; increased hair growth on areas exposed to the sun; and liver damage. […] Veterans with porphyria cutanea tarda that appeared within one year of exposure to Agent Orange to a degree of at least 10 percent disabling by VA’s rating regulations may be eligible for disability compensation and health care. […] The revised conclusion, however, did not change VA’s decision that PCT in Veterans who were exposed to herbicides used in Vietnam was caused by their military service when porphyria cutanea tarda appears within one year of exposure to Agent Orange, and is at least 10 percent disabling.

• #15 Porphyria | UCSF Department of Surgery

  https://pedsurg.ucsf.edu/condition/porphyria

  Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. […] Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms. […] A health care provider diagnoses porphyria with blood, urine, and stool tests. […] Symptoms of cutaneous porphyrias include oversensitivity to sunlight, blisters on exposed areas of the skin, and itching and swelling on exposed areas of the skin. […] Symptoms of acute porphyrias include pain in the abdomen, pain in the chest, limbs, or back, nausea and vomiting, constipation, urinary retention, confusion, hallucinations, seizures and muscle weakness. […] A health care provider treats acute porphyrias with heme or glucose loading to decrease the liver’s production of porphyrins and porphyrin precursors. […] The most important step a person can take to treat a cutaneous porphyria is to avoid sunlight as much as possible. […] A health care provider may recommend vitamin and mineral supplements for people with a cutaneous porphyria.

• #16 Emergency Room Guidelines for Acute Porphyrias – American Porphyria Foundation

  https://porphyriafoundation.org/for-healthcare-professionals/emergency-room-guidelines-for-acute-porphyrias/

  Most acute attacks should be treated with hemin (Panhematin, Recordati Rare Diseases at: www.recordatirarediseases.com or 866-654-0539) 3-4mg/kg into a large peripheral vein or venous access port daily for 4 days. […] Hospitalization is usually required for symptomatic treatment of pain, nausea and vomiting, correction of electrolyte imbalance and observation for respiratory impairment, either to a general medical service or ICU. […] The most effective therapy for the acute attack is Panhematin. […] The standard Panhematin treatment course is 3-4 mg/kg by vein once daily for 4 days. […] Panhematin can cause phlebitis at the site of infusion, which may compromise venous access. […] Patients should be monitored closely and treated for pain and other symptoms, and for complications such a respiratory impairment, hyponatremia and neuropsychiatric manifestations.

• #17 Porphyria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072

  Treatment of acute porphyria attacks focuses on providing fast treatment of symptoms and preventing complications. Treatment may include: Injections of hemin (Panhematin), a medicine that is a form of heme, to limit your body’s production of porphyrins. Receiving fluid that contains sugar, also called glucose, through a vein, or sugar taken by mouth, if able. This is done to make sure you get enough carbohydrates. A stay in the hospital for treatment of symptoms such as severe pain, vomiting, dehydration or breathing problems. […] Treatment of cutaneous porphyrias focuses on reducing exposure to triggers such as sunlight. It also includes reducing the amount of porphyrins in the body to help relieve symptoms. Reducing porphyrins may include: Regularly scheduled blood draws to reduce the iron in your body, which decreases porphyrins. This process is called phlebotomy. Taking a medicine used to treat malaria, usually hydroxychloroquine (Plaquenil). This can help absorb excess porphyrins and help your body get rid of them more quickly than usual. The medicine is generally used only in people who can’t tolerate phlebotomy. A dietary supplement to replace low vitamin D levels caused by avoiding sunlight.

• #18 What Is Porphyria? Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17760-porphyria

  Healthcare providers can help you diagnose, manage and possibly prevent symptoms to lessen the impact of these conditions on your life. […] Treatment depends on the type of porphyria you have and how it affects you. Your provider will help you understand whats best in your unique situation. […] If you have acute porphyria, you may need care at a hospital when an attack occurs. At the hospital, providers will do one or more of the following: Give you medication (hemin infusion) to reduce ALA and PBG levels, Give you medications to manage pain, nausea and/or seizures, Give you IV fluids, Monitor your electrolyte levels and replenish as needed, Watch for any changes to your mental status. […] No matter the specific type of cutaneous porphyria you have, protecting your skin is vital to preventing symptoms. Sunscreen typically isnt enough. Ideally, you should avoid being in the sun at all. If you must do so, wear sun-protective clothing. Your provider can advise you on whats best.

• #19 Porphyria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072

  Treatment of acute porphyria attacks focuses on providing fast treatment of symptoms and preventing complications. Treatment may include: Injections of hemin (Panhematin), a medicine that is a form of heme, to limit your body’s production of porphyrins. Receiving fluid that contains sugar, also called glucose, through a vein, or sugar taken by mouth, if able. This is done to make sure you get enough carbohydrates. A stay in the hospital for treatment of symptoms such as severe pain, vomiting, dehydration or breathing problems. […] Treatment of cutaneous porphyrias focuses on reducing exposure to triggers such as sunlight. It also includes reducing the amount of porphyrins in the body to help relieve symptoms. Reducing porphyrins may include: Regularly scheduled blood draws to reduce the iron in your body, which decreases porphyrins. This process is called phlebotomy. Taking a medicine used to treat malaria, usually hydroxychloroquine (Plaquenil). This can help absorb excess porphyrins and help your body get rid of them more quickly than usual. The medicine is generally used only in people who can’t tolerate phlebotomy. A dietary supplement to replace low vitamin D levels caused by avoiding sunlight.

• #20 Emergency Room Guidelines for Acute Porphyrias – American Porphyria Foundation

  https://porphyriafoundation.org/for-healthcare-professionals/emergency-room-guidelines-for-acute-porphyrias/

  Most acute attacks should be treated with hemin (Panhematin, Recordati Rare Diseases at: www.recordatirarediseases.com or 866-654-0539) 3-4mg/kg into a large peripheral vein or venous access port daily for 4 days. […] Hospitalization is usually required for symptomatic treatment of pain, nausea and vomiting, correction of electrolyte imbalance and observation for respiratory impairment, either to a general medical service or ICU. […] The most effective therapy for the acute attack is Panhematin. […] The standard Panhematin treatment course is 3-4 mg/kg by vein once daily for 4 days. […] Panhematin can cause phlebitis at the site of infusion, which may compromise venous access. […] Patients should be monitored closely and treated for pain and other symptoms, and for complications such a respiratory impairment, hyponatremia and neuropsychiatric manifestations.

• #21 Porphyria Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/porphyria

  Porphyria is inherited. This means the disorder is passed down through families. […] Some of the medicines used to treat a sudden (acute) attack of porphyria may include: Hematin given through a vein (intravenously), Pain medicine, Propranolol to control the heartbeat, Sedatives to help you feel calm and less anxious. […] Depending on the type of porphyria you have, your provider may tell you to: Avoid all alcohol, Avoid certain drugs that may trigger an attack, Avoid injuring the skin, Avoid sunlight as much as possible and use sunscreen when outside, Eat a high-carbohydrate diet. […] Get medical help as soon as you have signs of an acute attack. Talk to your provider about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight. […] Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.

• #22 Diagnosis and management of porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1127427/

  Oral and intravenous glucose (for maintaining a high energy intake) and haem arginate are the mainstay of treatment. They reduce synthesis of aminolaevulinic acid, resulting in a clinical and biochemical remission, with urinary excretion of aminolaevulinic acid and porphobilinogen falling towards normal values. […] Haem arginate (Normosang, Leiras Medica, Finland) should be given at an early stage in an attack as it cannot reverse an established neuropathy. […] Precipitating factors mentioned previously (such as alcohol, smoking, and porphyrogenic agents) should be avoided, as should sudden or prolonged low energy diets. Patients should wear a Medic Alert bracelet (an emergency identification bracelet) and should be fully educated regarding precipitating factors. […] The cutaneous porphyrias are treated by avoidance of sunlight and attention to skin care. Additionally, venesection to deplete excess iron stores, oral chloroquine to increase urinary porphyrin excretion, and avoidance of alcohol and oestrogens are all particularly helpful in porphyria cutanea tarda.

• #23 Intensive care management of patients with acute intermittent porphyria: Clinical report of four cases and review of literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2936738/

  Acute intermittent porphyria (AIP), the most common and the most severe form of acute hepatic porphyria, is an autosomal dominant condition. […] Avoidance of precipitating factors and the use of haem preparations and intravenous dextrose form the basis of management. […] Patients of AIP may require ventilatory support for progressive ascending paralysis with respiratory and/or bulbar muscle involvement. […] The most important step in preventing further crises is to withdraw the precipitating factors such as prolonged fasting, dehydration, stress, hypothermia, infection, and fever. […] To conclude, patients with AIP constitute a group of critically ill patients who require specialized care.

• #24 Emergency Room Guidelines for Acute Porphyrias – American Porphyria Foundation

  https://porphyriafoundation.org/for-healthcare-professionals/emergency-room-guidelines-for-acute-porphyrias/

  Patient education, genetic counseling, a medic alert bracelet or card, and consultation with a porphyria expert for additional advice and follow-up is recommended after recovery from an acute attack. […] Attacks recur in some patients, even if they avoid drugs and other factors that are known to cause exacerbations. […] Some patients develop chronic symptoms, including chronic pain syndrome and severe depression with an increase risk of suicide.

• #25 Porphyria, Acute Intermittent – Hematology – Diseases – McMaster Textbook of Internal Medicine

  https://empendium.com/mcmtextbook/chapter/B31.II.7.7.

  Acute intermittent porphyria (AIP) is a hereditary autosomal dominant disorder of heme synthesis. […] General Measures […] Recommend avoidance of known factors causing porphyria attacks, including drugs. […] Provide dietary counseling to ensure a well-balanced diet with appropriate carbohydrate intake (~60%-70% of total caloric intake). […] Encourage the patient to always carry information about their diagnosis (eg, on a wrist bracelet). […] Admit the patient to the hospital and closely monitor their heart rate, blood pressure, neurologic status, fluid balance, and serum electrolyte and creatinine levels (at least daily). […] Discontinue all drugs and eliminate all other factors that may potentiate porphyria attacks. […] Start symptomatic treatment using drugs that can be safely administered in porphyria.

• #26 Porphyria, Acute Intermittent – Hematology – Diseases – McMaster Textbook of Internal Medicine

  https://empendium.com/mcmtextbook/chapter/B31.II.7.7.

  For patients who have multiple attacks per year despite avoiding triggers, prophylactic hemin, gonadotropin-releasing hormone analogues (for women with recurrent luteal phase attacks), or givosiran may be indicated. […] Monitoring of liver enzymes and renal function, abdominal ultrasonography, and blood pressure measurement should be done regularly (eg, annually).

• #27 Acute intermittent porphyria: Management – UpToDate

  https://www.uptodate.com/contents/acute-intermittent-porphyria-management

  Acute intermittent porphyria (AIP, Swedish porphyria, pyrroloporphyria, intermittent acute porphyria) is an autosomal dominant disorder of low penetrance resulting from a partial deficiency of porphobilinogen deaminase (PBGD, also known as hydroxymethylbilane synthase [HMBS], previously called uroporphyrinogen I synthase), the third enzyme in the heme biosynthetic pathway. […] Symptoms in AIP are chiefly due to effects on the visceral, peripheral, autonomic, and central nervous systems. They usually occur as intermittent attacks that can be life-threatening due to severe neurologic complications (eg, seizures, paresis). Symptoms may become chronic especially after many attacks. […] The management of patients with attacks of AIP can be challenging because the disease manifestations are diverse and potentially severe. Timely intervention can resolve and prevent attacks; any other condition (eg, infection, medication exposure) that may have triggered the acute attack must also be addressed. Close long-term monitoring for complications is also needed.

• #28 Emergency Room Guidelines for Acute Porphyrias – American Porphyria Foundation

  https://porphyriafoundation.org/for-healthcare-professionals/emergency-room-guidelines-for-acute-porphyrias/

  Patient education, genetic counseling, a medic alert bracelet or card, and consultation with a porphyria expert for additional advice and follow-up is recommended after recovery from an acute attack. […] Attacks recur in some patients, even if they avoid drugs and other factors that are known to cause exacerbations. […] Some patients develop chronic symptoms, including chronic pain syndrome and severe depression with an increase risk of suicide.

• #29 Porphyria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072

  Treatment of acute porphyria attacks focuses on providing fast treatment of symptoms and preventing complications. Treatment may include: Injections of hemin (Panhematin), a medicine that is a form of heme, to limit your body’s production of porphyrins. Receiving fluid that contains sugar, also called glucose, through a vein, or sugar taken by mouth, if able. This is done to make sure you get enough carbohydrates. A stay in the hospital for treatment of symptoms such as severe pain, vomiting, dehydration or breathing problems. […] Treatment of cutaneous porphyrias focuses on reducing exposure to triggers such as sunlight. It also includes reducing the amount of porphyrins in the body to help relieve symptoms. Reducing porphyrins may include: Regularly scheduled blood draws to reduce the iron in your body, which decreases porphyrins. This process is called phlebotomy. Taking a medicine used to treat malaria, usually hydroxychloroquine (Plaquenil). This can help absorb excess porphyrins and help your body get rid of them more quickly than usual. The medicine is generally used only in people who can’t tolerate phlebotomy. A dietary supplement to replace low vitamin D levels caused by avoiding sunlight.

• #30 What Is Porphyria? Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17760-porphyria

  Healthcare providers can help you diagnose, manage and possibly prevent symptoms to lessen the impact of these conditions on your life. […] Treatment depends on the type of porphyria you have and how it affects you. Your provider will help you understand whats best in your unique situation. […] If you have acute porphyria, you may need care at a hospital when an attack occurs. At the hospital, providers will do one or more of the following: Give you medication (hemin infusion) to reduce ALA and PBG levels, Give you medications to manage pain, nausea and/or seizures, Give you IV fluids, Monitor your electrolyte levels and replenish as needed, Watch for any changes to your mental status. […] No matter the specific type of cutaneous porphyria you have, protecting your skin is vital to preventing symptoms. Sunscreen typically isnt enough. Ideally, you should avoid being in the sun at all. If you must do so, wear sun-protective clothing. Your provider can advise you on whats best.

• #31 What Is Porphyria? Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17760-porphyria

  Strict protection from sun and fluorescent light exposure is extremely important to avoid skin blistering and complications. If skin blistering happens, antibiotic creams may be necessary. You may need oral or IV antibiotics if the infections are severe. […] When you have porphyria, follow-ups become a routine part of your life. Your healthcare provider will tell you when to come in for appointments. These are important for monitoring how the disease is affecting your body and catching signs of complications. You’ll likely need routine lab tests (blood and pee), along with other tests to check organ function.

• #32 Porphyria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072

  Treatment depends on the type of porphyria you have and how severe your symptoms are. Treatment includes medicine. It also includes identifying and avoiding symptom triggers, and relieving symptoms when they occur. […] To avoid triggers: Don’t use medicines known to trigger acute attacks. Ask your health care provider for a list of safe and unsafe medicines, including herbal supplements and over-the-counter products. Don’t use recreational or illicit drugs and avoid heavy drinking. Avoid fasting and dieting that involves severe calorie restriction. Don’t smoke. Minimize sun exposure. When you’re outdoors, wear protective clothing. Also use an opaque blocking sunscreen, such as one with zinc oxide or titanium dioxide. Use an SPF of at least 30 when you expect a short or limited amount of sun exposure. For longer times outdoors, use an SPF of 50. When indoors, use window filters. Treat infections and other illnesses promptly. Take steps to reduce emotional stress. Talk to your health care provider about options to prevent premenstrual attacks.

• #33 Porphyria Cutanea Tarda Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/1103643-treatment

  Renal transplantation has been effective at reducing porphyrin levels and improving cutaneous photosensitivity in cases of PCT occurring in patients with ESRD. […] Patients should avoid sunlight exposure until biochemical and clinical remission has been induced. Manual labor should be curtailed so as to minimize the mechanical trauma that causes erosions and blistering. […] Consultation with a dermatologist for a skin examination, as well as biopsies sent for hematoxylin and eosin (HE) staining and direct immunofluorescence, is indicated. […] Levels of hemoglobin, serum ferritin, and plasma or urinary porphyrins should be monitored during the course of treatment to guide the frequency of venesections and to determine the point where therapies may be discontinued.

• #34 Porphyria

  https://www.pcds.org.uk/clinical-guidance/porphyria

  The porphyria’s result from altered metabolism in the haem biosynthesis pathway, leading to an accumulation of porphyrins. There are three main types – porphyria cutanea tarda, variegate porphyria and erythropoietic protoporphyria. This chapter also considers pseudoporphyria. […] Provide a patient information leaflet on UV protection, which includes the following advice: That normal sunscreens are not effective as the reaction results from visible violet light (wavelengths 400-420nm), instead opaque sunscreens such as the Dundee formula are required. […] Investigate the cause – a complete liver screen is required (20% haemochromatosis, 15% hepatitis C, 15% related to alcohol). Oestrogens (most commonly HRT) can also be causal. […] Refer for specialist management – first line treatment is usually low dose hydroxychloroquine (100 mg twice a week) or chloroquine (125 mg twice a week), higher doses cause liver damage. In patients with haemochromatosis, and in other cases where medical treatment is not effective, then manage with venesection.

• #35 Porphyria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072

  Treatment of acute porphyria attacks focuses on providing fast treatment of symptoms and preventing complications. Treatment may include: Injections of hemin (Panhematin), a medicine that is a form of heme, to limit your body’s production of porphyrins. Receiving fluid that contains sugar, also called glucose, through a vein, or sugar taken by mouth, if able. This is done to make sure you get enough carbohydrates. A stay in the hospital for treatment of symptoms such as severe pain, vomiting, dehydration or breathing problems. […] Treatment of cutaneous porphyrias focuses on reducing exposure to triggers such as sunlight. It also includes reducing the amount of porphyrins in the body to help relieve symptoms. Reducing porphyrins may include: Regularly scheduled blood draws to reduce the iron in your body, which decreases porphyrins. This process is called phlebotomy. Taking a medicine used to treat malaria, usually hydroxychloroquine (Plaquenil). This can help absorb excess porphyrins and help your body get rid of them more quickly than usual. The medicine is generally used only in people who can’t tolerate phlebotomy. A dietary supplement to replace low vitamin D levels caused by avoiding sunlight.

• #36 Porphyria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072

  Treatment of acute porphyria attacks focuses on providing fast treatment of symptoms and preventing complications. Treatment may include: Injections of hemin (Panhematin), a medicine that is a form of heme, to limit your body’s production of porphyrins. Receiving fluid that contains sugar, also called glucose, through a vein, or sugar taken by mouth, if able. This is done to make sure you get enough carbohydrates. A stay in the hospital for treatment of symptoms such as severe pain, vomiting, dehydration or breathing problems. […] Treatment of cutaneous porphyrias focuses on reducing exposure to triggers such as sunlight. It also includes reducing the amount of porphyrins in the body to help relieve symptoms. Reducing porphyrins may include: Regularly scheduled blood draws to reduce the iron in your body, which decreases porphyrins. This process is called phlebotomy. Taking a medicine used to treat malaria, usually hydroxychloroquine (Plaquenil). This can help absorb excess porphyrins and help your body get rid of them more quickly than usual. The medicine is generally used only in people who can’t tolerate phlebotomy. A dietary supplement to replace low vitamin D levels caused by avoiding sunlight.

• #37 Porphyria Cutanea Tarda Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/1103643-treatment

  Sunlight avoidance is the main defense for photosensitivity until clinical remission can be induced. Sunscreen use should be encouraged. Alcohol use must be markedly curtailed. Treatment of an underlying hepatitis C virus (HCV) infection is critical for control of PCT. […] Estrogen use should be discontinued unless its necessity outweighs its adverse effects on porphyrin metabolism. After achievement of remission, estrogen therapies may be cautiously reinstituted; however, the duration of remissions may be shortened. […] Therapeutic phlebotomy reduces iron stores, which improves heme synthesis disturbed by ferro-mediated inhibition of uroporphyrinogen decarboxylase (UROD). The goal of therapy is to reduce serum ferritin levels to the lower limit of the reference range. […] For patients in whom phlebotomy is inconvenient or contraindicated or who have relatively mild iron overload, oral chloroquine phosphate at 125-250 mg twice weekly or oral hydroxychloroquine sulfate at 100-200 mg two or three times weekly dosages much lower than those for antimalarial or photoprotective indications can be effective.

• #38 Porphyria | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/porphyria

  Porphyria can affect the skin, nervous system, gastrointestinal system or all of these, depending on the specific type. […] Currently, there is no cure, but medical treatment and lifestyle changes can usually manage the symptoms. […] Treatments are available to manage the symptoms. […] Be guided by your doctor, but general suggestions for preventing symptoms of porphyria include: In all cases avoid known triggers for example, dont smoke or drink alcohol. […] Treatment for acute porphyria may include: pain medication, addressing the underlying cause for example, prescribing antibiotics to treat an infection or ceasing a particular medication, medication called hematin, which is a type of heme the body can use, intravenous fluids and glucose, admission to hospital in severe cases. […] Treatment for cutaneous porphyria may include: oral administration of activated charcoal, which helps to absorb excess porphyrins, daily supplementation with beta-carotene (vitamin A) as part of long-term treatment, therapeutic phlebotomy a healthcare practitioner can remove blood to reduce iron concentration in the liver. […] If you or your child have been diagnosed with porphyria, or if it runs in your family, it may be helpful to speak to a genetic counsellor.

• #39 Porphyria Cutanea Tarda Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/1103643-treatment

  Low-dose chloroquine and phlebotomy therapies may be used concomitantly to reach clinical and biochemical remission more rapidly. […] When venesections are not practical, chelation with deferoxamine (desferrioxamine) may be employed as an alternative means of iron mobilization. […] For patients with PCT who are anemic as a consequence of other chronic diseases (eg, renal failure or HIV infection), human recombinant erythropoietin can be used to stimulate erythropoiesis. […] In patients whose PCT is associated with HCV infection, effective treatment of the infection has resulted in a cure of the PCT as well. […] Pregnancy in women with PCT has been followed by safe delivery of healthy infants. […] Chronic anemia is often present in ESRD despite increased iron stores, limiting treatment by phlebotomy. Erythropoietin may be used to reduce excess iron stores by stimulating erythropoiesis, which may result in sufficient erythrocyte mass to permit judicious low-volume serial phlebotomy.

• #40 Porphyria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072

  A treatment option only approved for erythropoietic protoporphyria is afamelanotide (Scenesse), a medicine that increases melanin in the skin. This protects skin from sunlight and allows more time in the sun without a painful skin reaction. An implant is placed under the skin that slowly releases the medicine. Talk with your health care provider about safety information and any potential serious side effects.

• #41 Treatment Options – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/treatment-options/

  GIVLAARI is a treatment used to reduce acute hepatic porphyria (AHP) attacks in adults. […] GIVLAARI is given once a month as a subcutaneous injection (under the skin) by a healthcare professional. […] SCENESSE is a prescription medication that contains the active substance afamelanotide. […] Afamelanotide is used to increase tolerance to the sun and light in adults with a confirmed diagnosis of erythropoietic protoporphyria (EPP). […] By increasing the amount of eumelanin and acting as an antioxidant, SCENESSE can help to reduce the sensitivity of the skin to sunlight and artificial UV light sources.

• #42 Acute hepatic porphyria and anaesthesia — United Porphyrias Association

  https://www.porphyria.org/features/sumup6

  Surgery and the use on anesthesia require special considerations for patients with acute hepatic porphyrias (AHP- includes AIP, VP and HCP). This article provides an overview of precautions for the period before, during and after an operation (the perioperative period) for patients with AHP. […] Surgery can be safely undertaken in patients with porphyria, provided care is taken to avoid porphyria triggers. […] Patients who have active, or recently active, porphyria are most likely to develop an acute attack and it is recommended that a porphyria specialist be involved in the management of their care during the perioperative period. […] Some though not all general anesthetics are safe. Surgery can be safely undertaken provided the unsafe anesthetics are avoided. […] Prolonged fasting has been known to trigger attacks. The following precautions are recommended: Fasting times for elective procedures should be kept to a minimum by scheduling the procedure early on the theatre list.

• #43 Acute hepatic porphyria and anaesthesia — United Porphyrias Association

  https://www.porphyria.org/features/sumup6

  Surgery and the use on anesthesia require special considerations for patients with acute hepatic porphyrias (AHP- includes AIP, VP and HCP). This article provides an overview of precautions for the period before, during and after an operation (the perioperative period) for patients with AHP. […] Surgery can be safely undertaken in patients with porphyria, provided care is taken to avoid porphyria triggers. […] Patients who have active, or recently active, porphyria are most likely to develop an acute attack and it is recommended that a porphyria specialist be involved in the management of their care during the perioperative period. […] Some though not all general anesthetics are safe. Surgery can be safely undertaken provided the unsafe anesthetics are avoided. […] Prolonged fasting has been known to trigger attacks. The following precautions are recommended: Fasting times for elective procedures should be kept to a minimum by scheduling the procedure early on the theatre list.

• #44 Acute hepatic porphyria and anaesthesia — United Porphyrias Association

  https://www.porphyria.org/features/sumup6

  Following the operation, intravenous fluids containing glucose with sodium chloride 0.9% (or similar) should be administered until the patient is able to eat and drink. […] Most patients with AHP have normal pregnancies without clinical issues relating to porphyria. Acute attacks which have occurred during pregnancy have been safely treated with Haem Arginate (heme) without adverse outcomes. […] Acute porphyria is very rare before puberty. For children who are asymptomatic and have a known diagnosis of porphyria because of family testing, avoiding unsafe medication is recommended. […] Anesthesia can safely be given to patients with a diagnosis of AHP providing appropriate precautions are taken and only medicines on the safe list are administered perioperatively. If you have a history of acute porphyria attacks, it is advised that a porphyria specialist be consulted prior to your operation.

• #45 Porphyria – NYSORA

  https://www.nysora.com/anesthesia/porphyria/

  Anesthetic management of a patient with porphyria. […] Once an acute crisis has been diagnosed, management consists of the following: Remove or treat potential triggering factors and avoid a catabolic state. […] Anesthesiologists should be aware of the perioperative factors that may trigger or worsen an acute crisis in porphyria.

• #46 Acute hepatic porphyria and anaesthesia — United Porphyrias Association

  https://www.porphyria.org/features/sumup6

  Following the operation, intravenous fluids containing glucose with sodium chloride 0.9% (or similar) should be administered until the patient is able to eat and drink. […] Most patients with AHP have normal pregnancies without clinical issues relating to porphyria. Acute attacks which have occurred during pregnancy have been safely treated with Haem Arginate (heme) without adverse outcomes. […] Acute porphyria is very rare before puberty. For children who are asymptomatic and have a known diagnosis of porphyria because of family testing, avoiding unsafe medication is recommended. […] Anesthesia can safely be given to patients with a diagnosis of AHP providing appropriate precautions are taken and only medicines on the safe list are administered perioperatively. If you have a history of acute porphyria attacks, it is advised that a porphyria specialist be consulted prior to your operation.

• #47 Porphyria Cutanea Tarda Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/1103643-treatment

  Low-dose chloroquine and phlebotomy therapies may be used concomitantly to reach clinical and biochemical remission more rapidly. […] When venesections are not practical, chelation with deferoxamine (desferrioxamine) may be employed as an alternative means of iron mobilization. […] For patients with PCT who are anemic as a consequence of other chronic diseases (eg, renal failure or HIV infection), human recombinant erythropoietin can be used to stimulate erythropoiesis. […] In patients whose PCT is associated with HCV infection, effective treatment of the infection has resulted in a cure of the PCT as well. […] Pregnancy in women with PCT has been followed by safe delivery of healthy infants. […] Chronic anemia is often present in ESRD despite increased iron stores, limiting treatment by phlebotomy. Erythropoietin may be used to reduce excess iron stores by stimulating erythropoiesis, which may result in sufficient erythrocyte mass to permit judicious low-volume serial phlebotomy.

• #48 Acute hepatic porphyria and anaesthesia — United Porphyrias Association

  https://www.porphyria.org/features/sumup6

  Following the operation, intravenous fluids containing glucose with sodium chloride 0.9% (or similar) should be administered until the patient is able to eat and drink. […] Most patients with AHP have normal pregnancies without clinical issues relating to porphyria. Acute attacks which have occurred during pregnancy have been safely treated with Haem Arginate (heme) without adverse outcomes. […] Acute porphyria is very rare before puberty. For children who are asymptomatic and have a known diagnosis of porphyria because of family testing, avoiding unsafe medication is recommended. […] Anesthesia can safely be given to patients with a diagnosis of AHP providing appropriate precautions are taken and only medicines on the safe list are administered perioperatively. If you have a history of acute porphyria attacks, it is advised that a porphyria specialist be consulted prior to your operation.

• #49 Porphyria Cutanea Tarda Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/1103643-treatment

  Low-dose chloroquine and phlebotomy therapies may be used concomitantly to reach clinical and biochemical remission more rapidly. […] When venesections are not practical, chelation with deferoxamine (desferrioxamine) may be employed as an alternative means of iron mobilization. […] For patients with PCT who are anemic as a consequence of other chronic diseases (eg, renal failure or HIV infection), human recombinant erythropoietin can be used to stimulate erythropoiesis. […] In patients whose PCT is associated with HCV infection, effective treatment of the infection has resulted in a cure of the PCT as well. […] Pregnancy in women with PCT has been followed by safe delivery of healthy infants. […] Chronic anemia is often present in ESRD despite increased iron stores, limiting treatment by phlebotomy. Erythropoietin may be used to reduce excess iron stores by stimulating erythropoiesis, which may result in sufficient erythrocyte mass to permit judicious low-volume serial phlebotomy.

• #50 Porphyria Cutanea Tarda Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/1103643-treatment

  Low-dose chloroquine and phlebotomy therapies may be used concomitantly to reach clinical and biochemical remission more rapidly. […] When venesections are not practical, chelation with deferoxamine (desferrioxamine) may be employed as an alternative means of iron mobilization. […] For patients with PCT who are anemic as a consequence of other chronic diseases (eg, renal failure or HIV infection), human recombinant erythropoietin can be used to stimulate erythropoiesis. […] In patients whose PCT is associated with HCV infection, effective treatment of the infection has resulted in a cure of the PCT as well. […] Pregnancy in women with PCT has been followed by safe delivery of healthy infants. […] Chronic anemia is often present in ESRD despite increased iron stores, limiting treatment by phlebotomy. Erythropoietin may be used to reduce excess iron stores by stimulating erythropoiesis, which may result in sufficient erythrocyte mass to permit judicious low-volume serial phlebotomy.

• #51 Porphyria Center

  https://www.massgeneral.org/cancer-center/treatments-and-services/porphyria

  The Mass General Porphyria Center, the first of its kind in New England, provides comprehensive care and the latest therapies to patients with all types of porphyria. […] The Mass General Porphyria Center is a multidisciplinary clinic that includes physicians from the Division of Hematology and Oncology, the Division of Pulmonary and Critical Care Medicine, and the Department of Dermatology. […] Patients will often see multiple providers within one streamlined clinic visit. […] The Mass General Porphyria Center offers standard-of-care treatment to patients with porphyria including intravenous hemin and supportive care. […] The Mass General Porphyria Center offers two new FDA-approved drugs for the treatment of patients with porphyria. […] Clinical studies to help develop new treatments for patients with porphyria are underway.

• #52 Porphyria Comprehensive Diagnostic and Treatment Center | Mount Sinai – New York

  https://www.mountsinai.org/care/genetics/services/porphyria-diagnostic-treatment

  At the Porphyria Comprehensive Diagnostic and Treatment Center at Mount Sinai, our team of experts is committed to providing advanced clinical and diagnostic services for children and adults affected with acute or cutaneous porphyria. […] We provide consultations and clinical evaluations for individuals with confirmed diagnoses of porphyria (by biochemical testing and/or DNA testing), and diagnosis by DNA analysis for seven types of porphyrias. […] Our team includes three board certified doctors with an expertise in porphyria, genetic counselors, each of whom is board certified and board eligible by the American Board of Genetic Counseling, a DNA diagnostic laboratory, and a research team.

• #53 Porphyria Center

  https://www.massgeneral.org/cancer-center/treatments-and-services/porphyria

  The Mass General Porphyria Center, the first of its kind in New England, provides comprehensive care and the latest therapies to patients with all types of porphyria. […] The Mass General Porphyria Center is a multidisciplinary clinic that includes physicians from the Division of Hematology and Oncology, the Division of Pulmonary and Critical Care Medicine, and the Department of Dermatology. […] Patients will often see multiple providers within one streamlined clinic visit. […] The Mass General Porphyria Center offers standard-of-care treatment to patients with porphyria including intravenous hemin and supportive care. […] The Mass General Porphyria Center offers two new FDA-approved drugs for the treatment of patients with porphyria. […] Clinical studies to help develop new treatments for patients with porphyria are underway.

• #54 Palliative Care Aspects of Acute Intermittent Porphyria – A Case Report – Indian Journal of Palliative Care

  https://jpalliativecare.com/palliative-care-aspects-of-acute-intermittent-porphyria-a-case-report/

  A multidisciplinary approach is required to deal with the multifaceted disease. […] Palliative care is needed throughout the illness to cover the various aspects of the disease trajectory. […] Our case describes the palliative aspects of dealing with a case of AIP, which involves holistic care, that is, the management of physical as well as psychological symptoms, rehabilitation, caregiver support and counselling. […] Palliative management involves a multidisciplinary approach to patient care with the involvement of a palliative physician, psychiatrist, psychologist, dietician, physiatrist, physiotherapist, counsellor, occupational therapist, etc., apart from conventional medical management. […] Family support during the entire trajectory of the disease, as well as during the end of life, is the hallmark of palliative care.

• #55 Porphyria Center

  https://www.massgeneral.org/cancer-center/treatments-and-services/porphyria

  The Mass General Porphyria Center, the first of its kind in New England, provides comprehensive care and the latest therapies to patients with all types of porphyria. […] The Mass General Porphyria Center is a multidisciplinary clinic that includes physicians from the Division of Hematology and Oncology, the Division of Pulmonary and Critical Care Medicine, and the Department of Dermatology. […] Patients will often see multiple providers within one streamlined clinic visit. […] The Mass General Porphyria Center offers standard-of-care treatment to patients with porphyria including intravenous hemin and supportive care. […] The Mass General Porphyria Center offers two new FDA-approved drugs for the treatment of patients with porphyria. […] Clinical studies to help develop new treatments for patients with porphyria are underway.

• #56 Palliative Care Aspects of Acute Intermittent Porphyria – A Case Report – Indian Journal of Palliative Care

  https://jpalliativecare.com/palliative-care-aspects-of-acute-intermittent-porphyria-a-case-report/

  Acute intermitttent porphyria belongs to a rare group of diseases hallmarked by deficient biosynthesis of heme. […] Palliative care has emerged as an essential tool in the armamentarium of porphyria management. […] Palliative care in AIP needs to be emphasized, and palliative care services need to be utilized in these cases. […] The case shows the importance of palliative care throughout the disease course as it is a chronic disease with significant morbidity and carries a heavy symptom burden. […] This case provides the insight that rather than conventional management alone for such chronic diseases, palliative care should be incorporated. […] Early integration with palliative care helps in exploring all the domains of disease. […] This is one of the first cases reported highlighting palliative care in porphyria, bridging the gap in the literature.

• #57 Palliative Care Aspects of Acute Intermittent Porphyria – A Case Report – Indian Journal of Palliative Care

  https://jpalliativecare.com/palliative-care-aspects-of-acute-intermittent-porphyria-a-case-report/

  Acute intermitttent porphyria belongs to a rare group of diseases hallmarked by deficient biosynthesis of heme. […] Palliative care has emerged as an essential tool in the armamentarium of porphyria management. […] Palliative care in AIP needs to be emphasized, and palliative care services need to be utilized in these cases. […] The case shows the importance of palliative care throughout the disease course as it is a chronic disease with significant morbidity and carries a heavy symptom burden. […] This case provides the insight that rather than conventional management alone for such chronic diseases, palliative care should be incorporated. […] Early integration with palliative care helps in exploring all the domains of disease. […] This is one of the first cases reported highlighting palliative care in porphyria, bridging the gap in the literature.

• #58 Palliative Care Aspects of Acute Intermittent Porphyria – A Case Report – Indian Journal of Palliative Care

  https://jpalliativecare.com/palliative-care-aspects-of-acute-intermittent-porphyria-a-case-report/

  A multidisciplinary approach is required to deal with the multifaceted disease. […] Palliative care is needed throughout the illness to cover the various aspects of the disease trajectory. […] Our case describes the palliative aspects of dealing with a case of AIP, which involves holistic care, that is, the management of physical as well as psychological symptoms, rehabilitation, caregiver support and counselling. […] Palliative management involves a multidisciplinary approach to patient care with the involvement of a palliative physician, psychiatrist, psychologist, dietician, physiatrist, physiotherapist, counsellor, occupational therapist, etc., apart from conventional medical management. […] Family support during the entire trajectory of the disease, as well as during the end of life, is the hallmark of palliative care.

• #59 Palliative Care Aspects of Acute Intermittent Porphyria – A Case Report – Indian Journal of Palliative Care

  https://jpalliativecare.com/palliative-care-aspects-of-acute-intermittent-porphyria-a-case-report/

  Palliative care also aims at rehabilitation involving a physiatrist or physiotherapist as a part of a multidisciplinary approach to care. […] Palliative care in AIP may be less described, but it is one of the hereditary metabolic disorders that carries a high scope for palliative interventions. […] Palliative care is much different from conventional management of AIP as it involves the total care of the patient and the family, including the management of symptoms, such as pain and contractures, that are troublesome and sometimes intractable. […] End-of-life care and advanced care planning are also important requirements in AIP during the terminal stages, which are provided by the palliative care team. […] Palliative care in AIP needs further exploration, and palliative care services need to be utilised in all cases worldwide.

• #60 Palliative Care Aspects of Acute Intermittent Porphyria – A Case Report – Indian Journal of Palliative Care

  https://jpalliativecare.com/palliative-care-aspects-of-acute-intermittent-porphyria-a-case-report/

  Palliative care also aims at rehabilitation involving a physiatrist or physiotherapist as a part of a multidisciplinary approach to care. […] Palliative care in AIP may be less described, but it is one of the hereditary metabolic disorders that carries a high scope for palliative interventions. […] Palliative care is much different from conventional management of AIP as it involves the total care of the patient and the family, including the management of symptoms, such as pain and contractures, that are troublesome and sometimes intractable. […] End-of-life care and advanced care planning are also important requirements in AIP during the terminal stages, which are provided by the palliative care team. […] Palliative care in AIP needs further exploration, and palliative care services need to be utilised in all cases worldwide.

• #61 Palliative Care Aspects of Acute Intermittent Porphyria – A Case Report – Indian Journal of Palliative Care

  https://jpalliativecare.com/palliative-care-aspects-of-acute-intermittent-porphyria-a-case-report/

  Palliative care also aims at rehabilitation involving a physiatrist or physiotherapist as a part of a multidisciplinary approach to care. […] Palliative care in AIP may be less described, but it is one of the hereditary metabolic disorders that carries a high scope for palliative interventions. […] Palliative care is much different from conventional management of AIP as it involves the total care of the patient and the family, including the management of symptoms, such as pain and contractures, that are troublesome and sometimes intractable. […] End-of-life care and advanced care planning are also important requirements in AIP during the terminal stages, which are provided by the palliative care team. […] Palliative care in AIP needs further exploration, and palliative care services need to be utilised in all cases worldwide.

• #62 Emergency Room Guidelines for Acute Porphyrias – American Porphyria Foundation

  https://porphyriafoundation.org/for-healthcare-professionals/emergency-room-guidelines-for-acute-porphyrias/

  Patient education, genetic counseling, a medic alert bracelet or card, and consultation with a porphyria expert for additional advice and follow-up is recommended after recovery from an acute attack. […] Attacks recur in some patients, even if they avoid drugs and other factors that are known to cause exacerbations. […] Some patients develop chronic symptoms, including chronic pain syndrome and severe depression with an increase risk of suicide.

• #63 Porphyria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072

  Treatment depends on the type of porphyria you have and how severe your symptoms are. Treatment includes medicine. It also includes identifying and avoiding symptom triggers, and relieving symptoms when they occur. […] To avoid triggers: Don’t use medicines known to trigger acute attacks. Ask your health care provider for a list of safe and unsafe medicines, including herbal supplements and over-the-counter products. Don’t use recreational or illicit drugs and avoid heavy drinking. Avoid fasting and dieting that involves severe calorie restriction. Don’t smoke. Minimize sun exposure. When you’re outdoors, wear protective clothing. Also use an opaque blocking sunscreen, such as one with zinc oxide or titanium dioxide. Use an SPF of at least 30 when you expect a short or limited amount of sun exposure. For longer times outdoors, use an SPF of 50. When indoors, use window filters. Treat infections and other illnesses promptly. Take steps to reduce emotional stress. Talk to your health care provider about options to prevent premenstrual attacks.

• #64 Porphyria Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/porphyria

  Porphyria is inherited. This means the disorder is passed down through families. […] Some of the medicines used to treat a sudden (acute) attack of porphyria may include: Hematin given through a vein (intravenously), Pain medicine, Propranolol to control the heartbeat, Sedatives to help you feel calm and less anxious. […] Depending on the type of porphyria you have, your provider may tell you to: Avoid all alcohol, Avoid certain drugs that may trigger an attack, Avoid injuring the skin, Avoid sunlight as much as possible and use sunscreen when outside, Eat a high-carbohydrate diet. […] Get medical help as soon as you have signs of an acute attack. Talk to your provider about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight. […] Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.

• #65 Porphyria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072

  Treatment depends on the type of porphyria you have and how severe your symptoms are. Treatment includes medicine. It also includes identifying and avoiding symptom triggers, and relieving symptoms when they occur. […] To avoid triggers: Don’t use medicines known to trigger acute attacks. Ask your health care provider for a list of safe and unsafe medicines, including herbal supplements and over-the-counter products. Don’t use recreational or illicit drugs and avoid heavy drinking. Avoid fasting and dieting that involves severe calorie restriction. Don’t smoke. Minimize sun exposure. When you’re outdoors, wear protective clothing. Also use an opaque blocking sunscreen, such as one with zinc oxide or titanium dioxide. Use an SPF of at least 30 when you expect a short or limited amount of sun exposure. For longer times outdoors, use an SPF of 50. When indoors, use window filters. Treat infections and other illnesses promptly. Take steps to reduce emotional stress. Talk to your health care provider about options to prevent premenstrual attacks.

• #66 Acute Porphyria (Discharge Care)

  https://www.drugs.com/cg/acute-porphyria-discharge-care.html

  If you have a liver or kidney disease, it is especially important to keep all appointments. Write down your questions so you remember to ask them during your visits. […] The following list of medications are related to or used in the treatment of this condition. […] Do not smoke cigarettes or drink alcohol: Cigarettes and alcohol can trigger an attack. They may also damage your liver and further worsen your condition. Talk to your healthcare provider if you have trouble quitting smoking or drinking. […] Reduce stress: Physical and mental stress can trigger an attack. Talk to your healthcare provider about ways you can reduce stress. […] Be careful with medicines: Certain medicines can trigger an acute porphyria attack, so ask your healthcare provider about the medicines you take. […] Eat enough food: You can trigger an attack if you do not eat enough, especially if you cut out carbohydrates. Ask your healthcare provider how much you should eat each day. You may need to work with a dietitian to create a food plan.

• #67 Importance of a Treatment Plan for Porphyria and What to IncludeEnvelope icon

  https://porphyrianews.com/health-insights/treatment-plan-for-porphyria/

  Porphyria is a rare disease that affects fewer than 200,000 people in the U.S. Many physicians are, therefore, unfamiliar with it and its treatment. This could be a major problem, particularly in a medical emergency. If you have the disease, working with your primary doctor to develop and maintain a treatment plan can help ensure that you get the best care possible. […] The treatment for porphyria depends on the severity of symptoms and the specific type of disease. Doctors usually treat acute porphyrias with heme infusions to slow the body’s production of porphyrins. In severe cases, patients may require a liver transplant. […] In general, a treatment plan comprises a description of your disease and a list of common symptoms, underscoring those that you’ve been experiencing. Such a plan also has information about prescribed medications and supplements you currently take, including the dosage and possible side effects. If you’re on a special diet, your treatment plan should include that information too.

• #68 Importance of a Treatment Plan for Porphyria and What to IncludeEnvelope icon

  https://porphyrianews.com/health-insights/treatment-plan-for-porphyria/

  Porphyria is a rare disease that affects fewer than 200,000 people in the U.S. Many physicians are, therefore, unfamiliar with it and its treatment. This could be a major problem, particularly in a medical emergency. If you have the disease, working with your primary doctor to develop and maintain a treatment plan can help ensure that you get the best care possible. […] The treatment for porphyria depends on the severity of symptoms and the specific type of disease. Doctors usually treat acute porphyrias with heme infusions to slow the body’s production of porphyrins. In severe cases, patients may require a liver transplant. […] In general, a treatment plan comprises a description of your disease and a list of common symptoms, underscoring those that you’ve been experiencing. Such a plan also has information about prescribed medications and supplements you currently take, including the dosage and possible side effects. If you’re on a special diet, your treatment plan should include that information too.

• #69 Importance of a Treatment Plan for Porphyria and What to IncludeEnvelope icon

  https://porphyrianews.com/health-insights/treatment-plan-for-porphyria/

  Acute porphyria can be life-threatening, especially if the disease affects the muscles that control breathing. Some patients may also experience seizures, hallucinations, and other symptoms, which may make it difficult or impossible for them to explain their condition when they’re experiencing a medical emergency, underscoring the importance of having a treatment plan readily available. […] If you provide emergency room personnel with your plan, they can contact your physician for any questions about your treatment. Another copy should go to your healthcare proxy, a legally designated individual who can, if necessary, make medical decisions on your behalf. […] Review your treatment plan and update all necessary sections after each doctor’s visit. Were you prescribed new medications? Does your doctor have new recommendations? Are you trying a new treatment? Has your doctor changed the dosages of your current medications? Include all this information in your treatment plan.

• #70 My Secret Weapon for Managing Acute Porphyria AttacksEnvelope icon

  https://porphyrianews.com/columns/managing-acute-attacks-flare-toolkit/

  In accepting chronic pain and the acute intermittent porphyria (AIP) roller coaster, I came to terms with the realities of my new normal. […] It’s important to be ready for flares at any time with tools I can have on hand. In honor of Pain Awareness Month, I am devoting this column to managing acute pain attacks. I am ready when symptoms strike because I keep a flare kit. Following is what it contains. […] I take prescription medication for my acute symptoms, but most of the tools used to combat the pain and nausea of AIP can be purchased over the counter. […] A critical component of my flare kit is an understanding — a point-of-no-return pact — with my caregiver, Michael, of when my pain becomes something I can no longer manage safely at home. […] If I do end up seeking medical attention, I carry a porphyria emergency card (cards can be requested through the American Porphyria Foundation) in my wallet.

• #71 Importance of a Treatment Plan for Porphyria and What to IncludeEnvelope icon

  https://porphyrianews.com/health-insights/treatment-plan-for-porphyria/

  Acute porphyria can be life-threatening, especially if the disease affects the muscles that control breathing. Some patients may also experience seizures, hallucinations, and other symptoms, which may make it difficult or impossible for them to explain their condition when they’re experiencing a medical emergency, underscoring the importance of having a treatment plan readily available. […] If you provide emergency room personnel with your plan, they can contact your physician for any questions about your treatment. Another copy should go to your healthcare proxy, a legally designated individual who can, if necessary, make medical decisions on your behalf. […] Review your treatment plan and update all necessary sections after each doctor’s visit. Were you prescribed new medications? Does your doctor have new recommendations? Are you trying a new treatment? Has your doctor changed the dosages of your current medications? Include all this information in your treatment plan.

• #72 Porphyria: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001208.htm

  Get medical help as soon as you have signs of an acute attack. Talk to your provider about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight. […] Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.

• #73 Porphyria | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/porphyria

  Porphyria can affect the skin, nervous system, gastrointestinal system or all of these, depending on the specific type. […] Currently, there is no cure, but medical treatment and lifestyle changes can usually manage the symptoms. […] Treatments are available to manage the symptoms. […] Be guided by your doctor, but general suggestions for preventing symptoms of porphyria include: In all cases avoid known triggers for example, dont smoke or drink alcohol. […] Treatment for acute porphyria may include: pain medication, addressing the underlying cause for example, prescribing antibiotics to treat an infection or ceasing a particular medication, medication called hematin, which is a type of heme the body can use, intravenous fluids and glucose, admission to hospital in severe cases. […] Treatment for cutaneous porphyria may include: oral administration of activated charcoal, which helps to absorb excess porphyrins, daily supplementation with beta-carotene (vitamin A) as part of long-term treatment, therapeutic phlebotomy a healthcare practitioner can remove blood to reduce iron concentration in the liver. […] If you or your child have been diagnosed with porphyria, or if it runs in your family, it may be helpful to speak to a genetic counsellor.

• #74 Diagnosis and management of porphyria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1127427/

  Although porphyria is a relatively uncommon condition, it should be considered in patients presenting with an atypical medical, psychiatric, or surgical history. Acute attacks are associated with a substantial morbidity and mortality; there is a need for rapid and accurate diagnosis of the neuropsychiatric porphyrias, particularly because haem arginate can induce a definite remission if given early in an attack. Additionally, porphyrias may present with skin lesions or photosensitivity. […] Patients with porphyria should be referred to specialist centres and be advised to avoid precipitating factors, such as certain drugs. […] When a patient is diagnosed with an acute porphyria the whole family needs to be screened. […] Drug treatment should be prescribed only after reference to a drug list. Many such lists exist, but no list is universally accepted. Some drugs are generally agreed to be safe in acute porphyria; some are considered to be unsafe; and a large number of drugs may or may not be safe. For this last group of drugs, a commonsense assessment of benefit versus risk is needed; an acute attack is less likely to be precipitated if the disease is latent, if the patient has previously only had a single attack, and if the concentrations of urinary porphobilinogen and particularly of aminolaevulinic acid are normal at the time of prescribing the drug.

• #75 Porphyria

  https://www.pcds.org.uk/clinical-guidance/porphyria

  Long-term follow up is required as patients with poorly controlled PCT are more likely to get cirrhosis and liver carcinoma. […] Patients are best managed by a department that specialises in porphyria. […] Family members need screening. […] Refer patient to a specialist. The most common treatment is oral beta-carotene. The melanocyte stimulating hormone Afamelanotide is the most effective treatment but is not currently available in the UK on the NHS.

• #76 What Is Porphyria? Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17760-porphyria

  Strict protection from sun and fluorescent light exposure is extremely important to avoid skin blistering and complications. If skin blistering happens, antibiotic creams may be necessary. You may need oral or IV antibiotics if the infections are severe. […] When you have porphyria, follow-ups become a routine part of your life. Your healthcare provider will tell you when to come in for appointments. These are important for monitoring how the disease is affecting your body and catching signs of complications. You’ll likely need routine lab tests (blood and pee), along with other tests to check organ function.

• #77 What Is Porphyria? Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17760-porphyria

  Strict protection from sun and fluorescent light exposure is extremely important to avoid skin blistering and complications. If skin blistering happens, antibiotic creams may be necessary. You may need oral or IV antibiotics if the infections are severe. […] When you have porphyria, follow-ups become a routine part of your life. Your healthcare provider will tell you when to come in for appointments. These are important for monitoring how the disease is affecting your body and catching signs of complications. You’ll likely need routine lab tests (blood and pee), along with other tests to check organ function.

• #78 What Is Porphyria? Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17760-porphyria

  Strict protection from sun and fluorescent light exposure is extremely important to avoid skin blistering and complications. If skin blistering happens, antibiotic creams may be necessary. You may need oral or IV antibiotics if the infections are severe. […] When you have porphyria, follow-ups become a routine part of your life. Your healthcare provider will tell you when to come in for appointments. These are important for monitoring how the disease is affecting your body and catching signs of complications. You’ll likely need routine lab tests (blood and pee), along with other tests to check organ function.

• #79 Porphyria Cutanea Tarda Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/1103643-treatment

  Renal transplantation has been effective at reducing porphyrin levels and improving cutaneous photosensitivity in cases of PCT occurring in patients with ESRD. […] Patients should avoid sunlight exposure until biochemical and clinical remission has been induced. Manual labor should be curtailed so as to minimize the mechanical trauma that causes erosions and blistering. […] Consultation with a dermatologist for a skin examination, as well as biopsies sent for hematoxylin and eosin (HE) staining and direct immunofluorescence, is indicated. […] Levels of hemoglobin, serum ferritin, and plasma or urinary porphyrins should be monitored during the course of treatment to guide the frequency of venesections and to determine the point where therapies may be discontinued.

• #80 Porphyria, Acute Intermittent – Hematology – Diseases – McMaster Textbook of Internal Medicine

  https://empendium.com/mcmtextbook/chapter/B31.II.7.7.

  For patients who have multiple attacks per year despite avoiding triggers, prophylactic hemin, gonadotropin-releasing hormone analogues (for women with recurrent luteal phase attacks), or givosiran may be indicated. […] Monitoring of liver enzymes and renal function, abdominal ultrasonography, and blood pressure measurement should be done regularly (eg, annually).

• #81 Porphyria Cutanea Tarda Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/1103643-treatment

  Renal transplantation has been effective at reducing porphyrin levels and improving cutaneous photosensitivity in cases of PCT occurring in patients with ESRD. […] Patients should avoid sunlight exposure until biochemical and clinical remission has been induced. Manual labor should be curtailed so as to minimize the mechanical trauma that causes erosions and blistering. […] Consultation with a dermatologist for a skin examination, as well as biopsies sent for hematoxylin and eosin (HE) staining and direct immunofluorescence, is indicated. […] Levels of hemoglobin, serum ferritin, and plasma or urinary porphyrins should be monitored during the course of treatment to guide the frequency of venesections and to determine the point where therapies may be discontinued.

• #82 Acute Intermittent Porphyria – Hormonal and Metabolic Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/hormonal-and-metabolic-disorders/the-porphyrias/acute-intermittent-porphyria

  Doctors ensure that people do not take any of the medications known to precipitate an attack, and if possible address other factors that may have contributed to the attack. […] Treatment of seizures is problematic, because many commonly used antiseizure medications would worsen an attack. […] Because the risk of liver cancer is high among people with acute intermittent porphyria, people who are older than 50 are screened for liver cancer at least once per year. […] Attacks of acute intermittent porphyria can be prevented by maintaining good nutrition, including eating sufficient carbohydrates. […] Givosiran is sometimes given once per month by injection under the skin to prevent acute attacks.

• #83 Plasma Porphyrin Levels: Key to Porphyria Diagnosis and Care – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/plasma-porphyrin-levels-key-to-porphyria-diagnosis-and-care/

  The plasma porphyrin levels test is a critical tool for diagnosing and managing disorders related to porphyrin metabolism, including various forms of porphyria. […] Early detection through a porphyrin screening test is essential for effective treatment and symptom management. […] For individuals already diagnosed with porphyria, regular monitoring of plasma porphyrin levels is essential for evaluating treatment effectiveness and identifying potential flare-ups. […] Managing elevated porphyrin levels often involves a combination of dietary changes, medications, and lifestyle adjustments to minimize triggers and control symptoms. […] Ultimately, the plasma porphyrin levels test is more than just a diagnostic tool—it provides a window into the body’s complex biochemical processes. […] The plasma porphyrin levels test is an invaluable diagnostic tool for detecting and monitoring a range of conditions, particularly those related to porphyrin metabolism disorders.

• #84 Plasma Porphyrin Levels: Key to Porphyria Diagnosis and Care – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/plasma-porphyrin-levels-key-to-porphyria-diagnosis-and-care/

  The plasma porphyrin levels test is a critical tool for diagnosing and managing disorders related to porphyrin metabolism, including various forms of porphyria. […] Early detection through a porphyrin screening test is essential for effective treatment and symptom management. […] For individuals already diagnosed with porphyria, regular monitoring of plasma porphyrin levels is essential for evaluating treatment effectiveness and identifying potential flare-ups. […] Managing elevated porphyrin levels often involves a combination of dietary changes, medications, and lifestyle adjustments to minimize triggers and control symptoms. […] Ultimately, the plasma porphyrin levels test is more than just a diagnostic tool—it provides a window into the body’s complex biochemical processes. […] The plasma porphyrin levels test is an invaluable diagnostic tool for detecting and monitoring a range of conditions, particularly those related to porphyrin metabolism disorders.

• #85 Plasma Porphyrin Levels: Key to Porphyria Diagnosis and Care – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/plasma-porphyrin-levels-key-to-porphyria-diagnosis-and-care/

  A plasma porphyrin levels test is essential for diagnosing AIP, as it detects elevated levels of specific porphyrins, particularly porphobilinogen (PBG) and delta-aminolevulinic acid (ALA), during an acute attack. […] A plasma porphyrin test confirms the diagnosis by identifying these elevated levels. […] The plasma porphyrin levels test detects elevated levels of protoporphyrin, a hallmark of EPP. […] The plasma porphyrin levels test plays a crucial role in diagnosing disorders related to porphyrin metabolism, such as porphyria. […] If your results indicate elevated porphyrin levels, your healthcare provider may recommend additional tests, such as a comprehensive porphyrin profile or urine porphyrin analysis, to confirm the diagnosis and identify the specific type of porphyria. […] Significantly high porphyrin levels often point to severe porphyria or another serious condition.

• #86 Plasma Porphyrin Levels: Key to Porphyria Diagnosis and Care – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/plasma-porphyrin-levels-key-to-porphyria-diagnosis-and-care/

  A plasma porphyrin levels test is essential for diagnosing AIP, as it detects elevated levels of specific porphyrins, particularly porphobilinogen (PBG) and delta-aminolevulinic acid (ALA), during an acute attack. […] A plasma porphyrin test confirms the diagnosis by identifying these elevated levels. […] The plasma porphyrin levels test detects elevated levels of protoporphyrin, a hallmark of EPP. […] The plasma porphyrin levels test plays a crucial role in diagnosing disorders related to porphyrin metabolism, such as porphyria. […] If your results indicate elevated porphyrin levels, your healthcare provider may recommend additional tests, such as a comprehensive porphyrin profile or urine porphyrin analysis, to confirm the diagnosis and identify the specific type of porphyria. […] Significantly high porphyrin levels often point to severe porphyria or another serious condition.

• #87 Porphyria Center

  https://www.massgeneral.org/cancer-center/treatments-and-services/porphyria

  The Mass General Porphyria Center, the first of its kind in New England, provides comprehensive care and the latest therapies to patients with all types of porphyria. […] The Mass General Porphyria Center is a multidisciplinary clinic that includes physicians from the Division of Hematology and Oncology, the Division of Pulmonary and Critical Care Medicine, and the Department of Dermatology. […] Patients will often see multiple providers within one streamlined clinic visit. […] The Mass General Porphyria Center offers standard-of-care treatment to patients with porphyria including intravenous hemin and supportive care. […] The Mass General Porphyria Center offers two new FDA-approved drugs for the treatment of patients with porphyria. […] Clinical studies to help develop new treatments for patients with porphyria are underway.

• #88 Acute Hepatic Porphyria: Causes, Symptoms & Treatments

  https://liverfoundation.org/liver-diseases/rare-disease/acute-hepatic-porphyria-ahp/

  Porphyria refers to a group of diseases that affect fewer than 200,000 people. Acute Hepatic Porphyria (AHP) refers to a family of rare genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic (ongoing and sometimes lifelong) pain and other symptoms that interfere in their ability to live normal lives. […] AHP is a hereditary disease, meaning that it can be passed from parents to children. This can occur if either one or both parents carry the defective gene, depending on the AHP type. Men and women inherit the disease equally as often; however, women tend to suffer symptoms more often than men. […] There is no cure for AHP, but there are ways to manage its symptoms. The U.S. Food and Drug Administration has approved some medications that doctors may prescribe to either reduce or treat AHP attacks. Disease management may also include pain medications and glucose supplementation.

• #89 Treatment Options – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/treatment-options/

  GIVLAARI is a treatment used to reduce acute hepatic porphyria (AHP) attacks in adults. […] GIVLAARI is given once a month as a subcutaneous injection (under the skin) by a healthcare professional. […] SCENESSE is a prescription medication that contains the active substance afamelanotide. […] Afamelanotide is used to increase tolerance to the sun and light in adults with a confirmed diagnosis of erythropoietic protoporphyria (EPP). […] By increasing the amount of eumelanin and acting as an antioxidant, SCENESSE can help to reduce the sensitivity of the skin to sunlight and artificial UV light sources.

• #90 Treatment Options – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/treatment-options/

  GIVLAARI is a treatment used to reduce acute hepatic porphyria (AHP) attacks in adults. […] GIVLAARI is given once a month as a subcutaneous injection (under the skin) by a healthcare professional. […] SCENESSE is a prescription medication that contains the active substance afamelanotide. […] Afamelanotide is used to increase tolerance to the sun and light in adults with a confirmed diagnosis of erythropoietic protoporphyria (EPP). […] By increasing the amount of eumelanin and acting as an antioxidant, SCENESSE can help to reduce the sensitivity of the skin to sunlight and artificial UV light sources.

• #91 Treatment Options – American Porphyria Foundation

  https://porphyriafoundation.org/for-patients/about-porphyria/treatment-options/

  The American Porphyria Foundation (APF) promotes comprehensive care necessary for treating individuals with Porphyria. […] Although there is no cure for Porphyria, there is treatment available for each type of the disease. […] Doctors administer Panhematin to correct heme deficiency in the liver and repress production of porphyrin precursors. […] Panhematin almost always normalizes porphyrin and porphyrin precursor values. […] Three to four mg/kg of Panhematin given once daily for four days early in an attack produces a highly beneficial effect in most patients. […] Commonly noted are decreases in pulse rate, blood pressure, abdominal pain, as well as decreased levels of urinary porphobilinogen (PBG). […] Today, physicians experienced in treating patients with attacks of Porphyria recommend early use of Panhematin rather than waiting to see if glucose alone will be of decisive help.

• #92 Acute porphyrias: Symptoms, diagnosis and treatment Clínica Universidad de Navarra

  https://www.cun.es/en/diseases-treatments/diseases/acute-porphyrias

  „Patients with acute porphyrias who suffer frequent attacks have a reduced quality of life and require frequent hospital admissions for the treatment of their symptoms”. […] Treatment of acute porphyria is only symptomatic and so far the only strategy available to cure the disease definitively is liver transplantation. […] Mild acute attacks can be treated with analgesic drugs of different levels and ensuring an adequate intake of carbohydrates (sugars), since these can contribute to reduce the accumulation of precursors due to their inhibitory effect on the activity of the first of the enzymes of the heme production chain. […] More intense attacks are treated by administering heme, a medication that is given intravenously, usually on an inpatient basis. […] In addition to standard treatment with heme, the Clinic, together with other centers around the world, is participating in a phase 3 clinical trial for the treatment of this disease with a drug called Givosiran.

• #93 Porphyria Center

  https://www.massgeneral.org/cancer-center/treatments-and-services/porphyria

  The Mass General Porphyria Center, the first of its kind in New England, provides comprehensive care and the latest therapies to patients with all types of porphyria. […] The Mass General Porphyria Center is a multidisciplinary clinic that includes physicians from the Division of Hematology and Oncology, the Division of Pulmonary and Critical Care Medicine, and the Department of Dermatology. […] Patients will often see multiple providers within one streamlined clinic visit. […] The Mass General Porphyria Center offers standard-of-care treatment to patients with porphyria including intravenous hemin and supportive care. […] The Mass General Porphyria Center offers two new FDA-approved drugs for the treatment of patients with porphyria. […] Clinical studies to help develop new treatments for patients with porphyria are underway.

• #94 Acute porphyrias: Symptoms, diagnosis and treatment Clínica Universidad de Navarra

  https://www.cun.es/en/diseases-treatments/diseases/acute-porphyrias

  „Patients with acute porphyrias who suffer frequent attacks have a reduced quality of life and require frequent hospital admissions for the treatment of their symptoms”. […] Treatment of acute porphyria is only symptomatic and so far the only strategy available to cure the disease definitively is liver transplantation. […] Mild acute attacks can be treated with analgesic drugs of different levels and ensuring an adequate intake of carbohydrates (sugars), since these can contribute to reduce the accumulation of precursors due to their inhibitory effect on the activity of the first of the enzymes of the heme production chain. […] More intense attacks are treated by administering heme, a medication that is given intravenously, usually on an inpatient basis. […] In addition to standard treatment with heme, the Clinic, together with other centers around the world, is participating in a phase 3 clinical trial for the treatment of this disease with a drug called Givosiran.

• #95 What Is Porphyria? | UPMC HealthBeat

  https://share.upmc.com/2023/01/what-is-porphyria/

  Porphyria is a group of genetic disorders that can affect the skin, nervous system, liver, and other organs. It occurs because of abnormalities in the bodys creation of the molecule heme. […] Porphyria is curable, but that typically involves a liver or bone marrow transplant. Because of that, treatment usually comes in the form of disease management. […] A major part of treating porphyria comes with avoiding triggers. Depending on your type of porphyria, triggers may include sunlight, certain medications, alcohol, and even dieting. If you have a disease that can trigger porphyria, like hepatitis C, treating that condition can also help manage porphyria. […] Because of these potential complications, getting a proper diagnosis and treatment is crucial. […] Theres no reason in the world for a person to have to suffer from this disorder as long as we can make the diagnosis, Dr. Smith says. And the only way that we can make the diagnosis is if people insist upon being evaluated, or at least have that discussion with their primary care provider. If you do have it, theres things that we can do about it. We have the ability to change peoples lives with this.

• #96 Acute porphyrias: Symptoms, diagnosis and treatment Clínica Universidad de Navarra

  https://www.cun.es/en/diseases-treatments/diseases/acute-porphyrias

  „Patients with acute porphyrias who suffer frequent attacks have a reduced quality of life and require frequent hospital admissions for the treatment of their symptoms”. […] Treatment of acute porphyria is only symptomatic and so far the only strategy available to cure the disease definitively is liver transplantation. […] Mild acute attacks can be treated with analgesic drugs of different levels and ensuring an adequate intake of carbohydrates (sugars), since these can contribute to reduce the accumulation of precursors due to their inhibitory effect on the activity of the first of the enzymes of the heme production chain. […] More intense attacks are treated by administering heme, a medication that is given intravenously, usually on an inpatient basis. […] In addition to standard treatment with heme, the Clinic, together with other centers around the world, is participating in a phase 3 clinical trial for the treatment of this disease with a drug called Givosiran.

• #97 What Is Porphyria? | UPMC HealthBeat

  https://share.upmc.com/2023/01/what-is-porphyria/

  Porphyria is a group of genetic disorders that can affect the skin, nervous system, liver, and other organs. It occurs because of abnormalities in the bodys creation of the molecule heme. […] Porphyria is curable, but that typically involves a liver or bone marrow transplant. Because of that, treatment usually comes in the form of disease management. […] A major part of treating porphyria comes with avoiding triggers. Depending on your type of porphyria, triggers may include sunlight, certain medications, alcohol, and even dieting. If you have a disease that can trigger porphyria, like hepatitis C, treating that condition can also help manage porphyria. […] Because of these potential complications, getting a proper diagnosis and treatment is crucial. […] Theres no reason in the world for a person to have to suffer from this disorder as long as we can make the diagnosis, Dr. Smith says. And the only way that we can make the diagnosis is if people insist upon being evaluated, or at least have that discussion with their primary care provider. If you do have it, theres things that we can do about it. We have the ability to change peoples lives with this.

• #98

  https://www.nursingcenter.com/journalarticle?Article_ID=3148630&Journal_ID=54012&Issue_ID=3148446

  Abstract: Porphyrias are inherited metabolic disorders that involve alterations in enzymes utilized in the heme biosynthetic pathway. […] Treatments vary depending on clinical presentation. A thorough and detailed history is essential and key to discovering a porphyria diagnosis.

• #99

  https://www.nursingcenter.com/journalarticle?Article_ID=3148630&Journal_ID=54012&Issue_ID=3148446

  Abstract: Porphyrias are inherited metabolic disorders that involve alterations in enzymes utilized in the heme biosynthetic pathway. […] Treatments vary depending on clinical presentation. A thorough and detailed history is essential and key to discovering a porphyria diagnosis.

• #100

• #101 Acute Porphyria (Discharge Care)

  https://www.drugs.com/cg/acute-porphyria-discharge-care.html

  Acute porphyria is a disorder that affects how your body makes red blood cells (RBC). Your body needs a chemical called porphyrin to make heme, a part of RBC that carries oxygen. Porphyria prevents your body from creating enough enzymes to control the process, and porphyrin builds up. High levels of porphyrin can cause problems throughout your body, depending on where it builds up. Low levels of heme can also cause organ damage, because your blood cannot bring the organs enough oxygen. […] You may be given medicine to treat your porphyria or to manage symptoms. Take your medicine as directed. Call your healthcare provider if you think your medicine is not working or you have side effects. Tell your provider if you are allergic to any medicine. Keep a current list of the medicines, vitamins, and herbs you take. Keep the list with you in case of emergency. Include the amounts, and when, how, and why you take them.

• #102 Acute Porphyria (Discharge Care)

  https://www.drugs.com/cg/acute-porphyria-discharge-care.html

  If you have a liver or kidney disease, it is especially important to keep all appointments. Write down your questions so you remember to ask them during your visits. […] The following list of medications are related to or used in the treatment of this condition. […] Do not smoke cigarettes or drink alcohol: Cigarettes and alcohol can trigger an attack. They may also damage your liver and further worsen your condition. Talk to your healthcare provider if you have trouble quitting smoking or drinking. […] Reduce stress: Physical and mental stress can trigger an attack. Talk to your healthcare provider about ways you can reduce stress. […] Be careful with medicines: Certain medicines can trigger an acute porphyria attack, so ask your healthcare provider about the medicines you take. […] Eat enough food: You can trigger an attack if you do not eat enough, especially if you cut out carbohydrates. Ask your healthcare provider how much you should eat each day. You may need to work with a dietitian to create a food plan.

• #103 Acute Porphyria (Discharge Care)

  https://www.drugs.com/cg/acute-porphyria-discharge-care.html

  Acute porphyria is a disorder that affects how your body makes red blood cells (RBC). Your body needs a chemical called porphyrin to make heme, a part of RBC that carries oxygen. Porphyria prevents your body from creating enough enzymes to control the process, and porphyrin builds up. High levels of porphyrin can cause problems throughout your body, depending on where it builds up. Low levels of heme can also cause organ damage, because your blood cannot bring the organs enough oxygen. […] You may be given medicine to treat your porphyria or to manage symptoms. Take your medicine as directed. Call your healthcare provider if you think your medicine is not working or you have side effects. Tell your provider if you are allergic to any medicine. Keep a current list of the medicines, vitamins, and herbs you take. Keep the list with you in case of emergency. Include the amounts, and when, how, and why you take them.

• #104 Acute Porphyria (Discharge Care)

  https://www.drugs.com/cg/acute-porphyria-discharge-care.html

  If you have a liver or kidney disease, it is especially important to keep all appointments. Write down your questions so you remember to ask them during your visits. […] The following list of medications are related to or used in the treatment of this condition. […] Do not smoke cigarettes or drink alcohol: Cigarettes and alcohol can trigger an attack. They may also damage your liver and further worsen your condition. Talk to your healthcare provider if you have trouble quitting smoking or drinking. […] Reduce stress: Physical and mental stress can trigger an attack. Talk to your healthcare provider about ways you can reduce stress. […] Be careful with medicines: Certain medicines can trigger an acute porphyria attack, so ask your healthcare provider about the medicines you take. […] Eat enough food: You can trigger an attack if you do not eat enough, especially if you cut out carbohydrates. Ask your healthcare provider how much you should eat each day. You may need to work with a dietitian to create a food plan.

• #105 Acute Porphyria (Discharge Care)

  https://www.drugs.com/cg/acute-porphyria-discharge-care.html

  If you have a liver or kidney disease, it is especially important to keep all appointments. Write down your questions so you remember to ask them during your visits. […] The following list of medications are related to or used in the treatment of this condition. […] Do not smoke cigarettes or drink alcohol: Cigarettes and alcohol can trigger an attack. They may also damage your liver and further worsen your condition. Talk to your healthcare provider if you have trouble quitting smoking or drinking. […] Reduce stress: Physical and mental stress can trigger an attack. Talk to your healthcare provider about ways you can reduce stress. […] Be careful with medicines: Certain medicines can trigger an acute porphyria attack, so ask your healthcare provider about the medicines you take. […] Eat enough food: You can trigger an attack if you do not eat enough, especially if you cut out carbohydrates. Ask your healthcare provider how much you should eat each day. You may need to work with a dietitian to create a food plan.

• #106 Acute Porphyria (Discharge Care)

  https://www.drugs.com/cg/acute-porphyria-discharge-care.html

  Rest when you feel it is needed. Slowly start to do more each day. Return to your daily activities as directed. […] You have questions or concerns about your condition or care. […] Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.

• #107 Acute Porphyria (Discharge Care)

  https://www.drugs.com/cg/acute-porphyria-discharge-care.html

  If you have a liver or kidney disease, it is especially important to keep all appointments. Write down your questions so you remember to ask them during your visits. […] The following list of medications are related to or used in the treatment of this condition. […] Do not smoke cigarettes or drink alcohol: Cigarettes and alcohol can trigger an attack. They may also damage your liver and further worsen your condition. Talk to your healthcare provider if you have trouble quitting smoking or drinking. […] Reduce stress: Physical and mental stress can trigger an attack. Talk to your healthcare provider about ways you can reduce stress. […] Be careful with medicines: Certain medicines can trigger an acute porphyria attack, so ask your healthcare provider about the medicines you take. […] Eat enough food: You can trigger an attack if you do not eat enough, especially if you cut out carbohydrates. Ask your healthcare provider how much you should eat each day. You may need to work with a dietitian to create a food plan.

• #108 Acute Porphyria (Discharge Care)

  https://www.drugs.com/cg/acute-porphyria-discharge-care.html

  Rest when you feel it is needed. Slowly start to do more each day. Return to your daily activities as directed. […] You have questions or concerns about your condition or care. […] Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.

• #109 Porphyria Cutanea Tarda (Aftercare Instructions)

  https://www.drugs.com/cg/porphyria-cutanea-tarda-aftercare-instructions.html

  Porphyria cutanea tarda (PCT) is a disorder that causes skin to form blisters or lesions when exposed to sunlight. […] PCT can be genetic or caused by exposure to certain chemicals or infections. […] Call your doctor or hematologist if: […] You have pain, redness, or swelling around your skin blisters. […] Your skin blisters have a bad smell or pus coming out of them. […] Your symptoms do not improve or are getting worse. […] Ask your healthcare provider about how to care for your skin blisters at home. […] Clean your blisters with mild soap and water, and pat dry. […] Carefully check the blister and the area around it. Watch for any swelling, redness, or fluid oozing out of it. […] Cover your wound with a layer of sterile gauze bandage. […] Keep the bandage clean and dry. […] Follow up with your doctor or hematologist as directed: […] If you have a liver or kidney disease, it is especially important to keep all appointments.

• #110 Porphyria Cutanea Tarda (Aftercare Instructions)

  https://www.drugs.com/cg/porphyria-cutanea-tarda-aftercare-instructions.html

  Porphyria cutanea tarda (PCT) is a disorder that causes skin to form blisters or lesions when exposed to sunlight. […] PCT can be genetic or caused by exposure to certain chemicals or infections. […] Call your doctor or hematologist if: […] You have pain, redness, or swelling around your skin blisters. […] Your skin blisters have a bad smell or pus coming out of them. […] Your symptoms do not improve or are getting worse. […] Ask your healthcare provider about how to care for your skin blisters at home. […] Clean your blisters with mild soap and water, and pat dry. […] Carefully check the blister and the area around it. Watch for any swelling, redness, or fluid oozing out of it. […] Cover your wound with a layer of sterile gauze bandage. […] Keep the bandage clean and dry. […] Follow up with your doctor or hematologist as directed: […] If you have a liver or kidney disease, it is especially important to keep all appointments.

• #111 Porphyria Center

  https://www.massgeneral.org/cancer-center/treatments-and-services/porphyria

  The Mass General Porphyria Center, the first of its kind in New England, provides comprehensive care and the latest therapies to patients with all types of porphyria. […] The Mass General Porphyria Center is a multidisciplinary clinic that includes physicians from the Division of Hematology and Oncology, the Division of Pulmonary and Critical Care Medicine, and the Department of Dermatology. […] Patients will often see multiple providers within one streamlined clinic visit. […] The Mass General Porphyria Center offers standard-of-care treatment to patients with porphyria including intravenous hemin and supportive care. […] The Mass General Porphyria Center offers two new FDA-approved drugs for the treatment of patients with porphyria. […] Clinical studies to help develop new treatments for patients with porphyria are underway.

• #112 Porphyrias – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/porphyrias/

  Porphyria cutanea tarda (PCT) is the most common form and manifests with chronic, blistering cutaneous photosensitivity and tea-colored urine. The diagnosis of PCT is confirmed by detecting porphyrins in urine or serum. Management consists of rigorous photoprotective measures, regular phlebotomy or low-dose hydroxychloroquine, and avoiding risk factors. […] Management of AIP consists of supportive care; acute attacks should be treated with hemin to reduce heme production. […] The goal of therapy is to resolve the patient’s symptoms by reducing porphyrin levels. […] Avoid susceptibility factors, e.g., smoking, alcohol, and exogenous estrogen. […] Phlebotomy: indicated in all patients with symptomatic PCT. […] The choice of medications in porphyria patients is complicated and should ideally be agreed upon with a porphyria specialist. […] Management of acute attacks of AIP can be challenging; obtain specialist consults early. […] Due to the complexity of this rare disease, patients with AIP should receive an evaluation by specialists at a designated porphyria center.

• #113

  https://www.kch.nhs.uk/services/services-a-to-z/porphyria/

  We provide testing and treatment for adults and children with all forms of porphyria. […] All patients are offered an initial consultation including testing for porphyria. Patients with confirmed porphyria are offered long-term follow up. This includes monitoring for complications such as kidney or liver problems. […] We offer both a clinical and laboratory service for patients with all forms of porphyria. Our clinical service has a particular focus on the acute porphyrias (acute intermittent porphyria, variegate porphyria and hereditary coproporphyria). […] Most patients are seen in outpatient clinics. Inpatient porphyria care is usually provided at the patients local hospital, but occasionally inpatients may be transferred to Kings College Hospital. […] Haem arginate (Normosang) is currently the only specific treatment available to treat attacks of acute porphyria in the UK. It is supplied through NAPS when needed, including a home care service for the most severely affected patients. Patients who have had an acute attack are followed up in the service for two years and those with recurrent attacks are followed up indefinitely.

• #114 Gastroenterology

  https://www.utmb.edu/internalmedicine/divisions/gastroenterology/research/research-programs/porphyria-program/porphyria-center

  The UTMB Health Porphyria Center has a longstanding interest in the human porphyrias. We focus on research and development of new therapies, and on strengthening the evidence for existing therapies. […] Because there are few specialists nationwide with the adequate experience to diagnose and manage porphyria, we provide advice to patients and physicians to improve the accuracy of diagnoses and improve treatment. This engagement with the extended community of porphyria patients also helps us to highlight issues for further research. […] In addition, we are available to interact frequently with patients, family members, and physicians at a distance, and provide advice on diagnosis and treatment.

• #115 Gastroenterology

  https://www.utmb.edu/internalmedicine/divisions/gastroenterology/research/research-programs/porphyria-program/porphyria-center

  The UTMB Health Porphyria Center has a longstanding interest in the human porphyrias. We focus on research and development of new therapies, and on strengthening the evidence for existing therapies. […] Because there are few specialists nationwide with the adequate experience to diagnose and manage porphyria, we provide advice to patients and physicians to improve the accuracy of diagnoses and improve treatment. This engagement with the extended community of porphyria patients also helps us to highlight issues for further research. […] In addition, we are available to interact frequently with patients, family members, and physicians at a distance, and provide advice on diagnosis and treatment.

• #116 Gastroenterology

  https://www.utmb.edu/internalmedicine/divisions/gastroenterology/research/research-programs/porphyria-program/porphyria-center

  The UTMB Health Porphyria Center has a longstanding interest in the human porphyrias. We focus on research and development of new therapies, and on strengthening the evidence for existing therapies. […] Because there are few specialists nationwide with the adequate experience to diagnose and manage porphyria, we provide advice to patients and physicians to improve the accuracy of diagnoses and improve treatment. This engagement with the extended community of porphyria patients also helps us to highlight issues for further research. […] In addition, we are available to interact frequently with patients, family members, and physicians at a distance, and provide advice on diagnosis and treatment.

• #117 Porphyria Center

  https://www.massgeneral.org/cancer-center/treatments-and-services/porphyria

  The Mass General Porphyria Center, the first of its kind in New England, provides comprehensive care and the latest therapies to patients with all types of porphyria. […] The Mass General Porphyria Center is a multidisciplinary clinic that includes physicians from the Division of Hematology and Oncology, the Division of Pulmonary and Critical Care Medicine, and the Department of Dermatology. […] Patients will often see multiple providers within one streamlined clinic visit. […] The Mass General Porphyria Center offers standard-of-care treatment to patients with porphyria including intravenous hemin and supportive care. […] The Mass General Porphyria Center offers two new FDA-approved drugs for the treatment of patients with porphyria. […] Clinical studies to help develop new treatments for patients with porphyria are underway.

• #118 Gastroenterology

  https://www.utmb.edu/internalmedicine/divisions/gastroenterology/research/research-programs/porphyria-program/porphyria-center

  The UTMB Health Porphyria Center has a longstanding interest in the human porphyrias. We focus on research and development of new therapies, and on strengthening the evidence for existing therapies. […] Because there are few specialists nationwide with the adequate experience to diagnose and manage porphyria, we provide advice to patients and physicians to improve the accuracy of diagnoses and improve treatment. This engagement with the extended community of porphyria patients also helps us to highlight issues for further research. […] In addition, we are available to interact frequently with patients, family members, and physicians at a distance, and provide advice on diagnosis and treatment.

• #119 Gastroenterology

  https://www.utmb.edu/internalmedicine/divisions/gastroenterology/research/research-programs/porphyria-program/porphyria-center

  The UTMB Health Porphyria Center has a longstanding interest in the human porphyrias. We focus on research and development of new therapies, and on strengthening the evidence for existing therapies. […] Because there are few specialists nationwide with the adequate experience to diagnose and manage porphyria, we provide advice to patients and physicians to improve the accuracy of diagnoses and improve treatment. This engagement with the extended community of porphyria patients also helps us to highlight issues for further research. […] In addition, we are available to interact frequently with patients, family members, and physicians at a distance, and provide advice on diagnosis and treatment.

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