Materiały źródłowe

• #1 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. […] Treatment of acute porphyria attacks focuses on providing fast treatment of symptoms and preventing complications. Treatment may include: […] Givosiran (Givlaari) is a monthly shot for adults with acute hepatic porphyria. […] 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. […] High doses of beta carotene are a common treatment for erythropoietic protoporphyria. […] 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.

• #2 Treatment Options – American Porphyria Foundation

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

  You can also find information about the treatment of your type of Porphyria under your specific type. […] 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. […] In this section you’ll find detailed information on treatment options, tips on finding a local doctor and building a good working relationship with your doctor. […] Panhematin is a treatment for the acute Porphyrias manufactured by Recordati Rare Diseases in Lebanon New Jersey. […] Doctors administer Panhematin to correct heme deficiency in the liver and repress production of porphyrin precursors. […] Panhematin is the only commercially available heme therapy in the United States.

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

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

  Treatment can help manage and prevent symptoms. […] 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 what’s best in your unique situation. Here’s an overview of what you might expect. […] 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. […] Your provider may prescribe a medication called givosiran to help prevent future attacks. This is an injection you receive every month to suppress the overproduction of ALA and PBG.

• #4 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. […] 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. […] Treatment can sometimes include hospital stays so that patients can be monitored and treated when they have attacks that produce serious medical issues such as dehydration, hallucinations, paralysis and breathing difficulties.

• #5

  https://www.painscale.com/article/conventional-medical-treatment-for-porphyria

  Treatment is dependent on the type of porphyria and the severity of symptoms. It often includes medications and identifying and avoiding triggers. […] Treatment for acute porphyria attacks usually involves symptom management and prevention of future complications. This can include, but is not limited to, the following: Hospital care for the treatment of symptoms, such as dehydration, vomiting, breathing problems, and severe pain. IV or oral glucose to ensure carbohydrate intake. Hemin injection to limit the body’s production of porphyrins. Givosiran monthly injections for acute hepatic porphyria to reduce the frequency of attacks. Invasive treatments, including blood transfusion, surgery to remove the spleen, or liver or bone marrow transplant. […] Treatment for cutaneous porphyria is generally focused on the reduction of triggers, which is typically sunlight. It may also involve decreasing the amount of porphyrins in the body. This may be accomplished with the regular removal of blood from the body in order to lower excess iron. The removal of one pint, or approximately 450mL, of blood every two weeks can reduce iron levels. This treatment can result in remission. […] For those who cannot tolerate the procedures to have blood removed from the body, the medication hydroxychloroquine, a drug typically used for the treatment of malaria, is used. It helps absorb and dispose of extra amounts of porphyrins to prevent buildup in the body.

• #6 Acute Intermittent Porphyria Treatment & Management: Approach Considerations, Diet

  https://emedicine.medscape.com/article/205220-treatment

  The treatment goal for acute attacks of acute intermittent porphyria (AIP) is to decrease heme synthesis and reduce the production of porphyrin precursors. High doses of glucose can inhibit heme synthesis and are useful for treatment of mild attacks. United Kingdom guidelines recommend administering 5% glucose in 0.9% sodium chloride solution, infused intravenously at a rate of 2 L/24 h. Intravenous solutions of glucose in water (eg, dextrose 5% or 10% [D5W, D10W]) should be avoided as they may aggravate hyponatremia. […] Patients experiencing severe attacks, especially those with severe neurologic symptoms, should be treated with hematin in a dose of 4 mg/kg/d for 4 days. Once hematin is initiated, glucose therapy no longer has a role. […] Symptomatic treatment also includes the use of beta-blockers to control tachycardia and prevent arrhythmia; beta-blockers, clonidine, or other recommended antihypertensives can also be used to treat hypertensive crisis. Nausea and vomiting can be controlled with olanzapine, lorazepam, or prochlorperazine.

• #7 Management of the Acute Attack | Porphyria for Professionals

  https://porphyria.uct.ac.za/porphyria-professionals/porphyria-professionals/acute-symptoms/management-acute-attack

  The only uniformly effective therapy is haem arginate. This is highly effective in aborting the acute attack, but requires some effort to obtain and is expensive. See Haem arginate for the acute attack of porphyria. Older texts recommend large amounts of carbohydrate as a suppressive therapy for porphyria. The evidence for this is weak and, for any but the mildest attack, haem arginate should be given. […] Administration of any drug not known to be absolutely safe in porphyria must immediately be stopped. Other potentially complicating factors, such as infection, must be treated. […] Frequent, high doses of opiate analgesics are usually necessary. We recommend pethidine in doses of 50, 75 or 100 mg given hourly, 2-hourly or 4-hourly. […] The pain of the acute attack is very severe. […] Most patients are dehydrated as a result of nausea, vomiting, poor fluid intake and renal dysfunction. […] The recommended fluid is normal saline with five percent dextrose. […] If haem arginate has not already been commenced, it must be administered as an absolute emergency.

• #8 Acute Intermittent Porphyria: Diagnosis and Treatment

  https://www.healthline.com/health/hl-clinical-growth-diagnosing-and-treating-acute-intermittent-porphyria

  AIP is a rare metabolic disorder whose hallmark is a partial deficiency of an enzyme called hydroxymethylbilane synthase. […] Treatment for AIP depends on the symptoms. While people can vary in attack severity, without proper diagnosis and appropriate treatment, symptoms can progress to life threatening complications. […] The goal of treatment is to manage symptoms, avoid complications, and stop heme production in the liver. […] Some treatment options might include: stopping any drugs that can cause AIP attacks, getting enough calories and nutrients, including glucose and salt, even via intravenous (IV), increasing carbohydrate intake, taking pain relievers to help with mild attacks. […] IV heme therapy is also necessary, especially in severe acute attacks. A doctor can give it to you for 4 days. The therapy can help regulate the ALAS1 protein to improve symptoms. One drug that’s part of this therapy is hemin (Panhematin).

• #9 Treatment of the Acute Porphyria’s | mysite

  https://www.porphyriaalliance.org/treatment-of-the-acute-porphyria-s

  How Is Acute Porphyria Treated? […] A patient and their Doctor must decide together how and when to treat the Acute Porphyria. […] The treatment of the attack is to do routine ER testing, exclude any unsafe medications, look for causative factors (infections, unsafe medications, hormonal fluctuations,) admit the patient, order the Panhematin, balance electrolytes (hyponatremia is fairly common), provide IV glucose, and pain management, with safe medications, treat any seizures or anxiety (with safe medications see cautions below), treat nausea, and offer other psychiatric medications like Thorazine (low dose) if needed, and treat severe adrenergic crises, carefully monitor the patient, as respiratory failure and death has occurred. […] Treatment options for porphyria are Panhematin, Dextrose, and Liver transplant (rarely done). The Acute Porphyrias are one of the few genetic illnesses with treatment.

• #10 Acute Intermittent Porphyria Treatment & Management: Approach Considerations, Diet

  https://emedicine.medscape.com/article/205220-treatment

  Treat seizures with gabapentin. Most classic antiseizure medicines are contraindicated, as they can lead to acute porphyria attacks. […] A minority of patients with AIP experience recurrent attacks. In addition to avoidance of precipitating factors, treatment options that may be considered in those cases include gonadotrophin-releasing hormone analogues (for women with attacks related to their menstrual cycles) and prophylactic hematin infusions. […] Givosiran (Givlaari) is approved by the US Food and Drug Administration (FDA) for adults with acute hepatic porphyrias, in which attacks are caused by induction of the enzyme 5-aminolevulinic acid synthase 1 (ALAS1). Givosiran is a small-interfering RNA that causes degradation of aminolevulinate synthase 1 (ALAS1) messenger RNA (mRNA) in hepatocytes through RNA interference, reducing the elevated levels of liver ALAS1 mRNA. It is given monthly by subcutaneous injection.

• #11 Acute Hepatic Porphyria: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/24112-acute-hepatic-porphyria

  Long-term treatment options may include: Prophylactic hemin. People who experience frequent attacks may benefit from a weekly low dose of hemin to prevent porphyrins from building up. Givosiran (GIVLAARI). This medication is a type of gene therapy that inhibits the production of porphyrin precursors. The FDA has recently approved it as a monthly injection to prevent AHP symptoms in people with frequent attacks. Hormone therapy. If your menstrual cycle triggers your AHP, your doctor may prescribe GnRH (Gonadotropin-releasing hormone) analogs that inhibit estrogen and progesterone production in your body. High blood pressure medication. Those who develop chronic hypertension may need to control it with targeted medications. Liver transplantation. People who experience frequent, life-threatening attacks that dont respond to other treatment options may be eligible for a liver transplant. This can cure them.

• #12 Treatment Options – American Porphyria Foundation

  https://porphyriafoundation.org/for-healthcare-professionals/diagnosis-and-testing/treatment-options/

  Doctors administer Panhematin to correct heme deficiency in the liver and repress production of porphyrin precursors. […] Panhematin is the only commercially available heme therapy in the United States. […] While a high carbohydrate diet is recommended for patients with Porphyria, it is not regarded as highly effective by itself. […] 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. […] GIVLAARI is a treatment used to prevent acute hepatic porphyria (AHP) in adults. […] GIVLAARI is given once a month as a subcutaneous injection (under the skin) by a healthcare professional. […] GIVLAARI is a double-stranded small interfering RNA (siRNA) therapeutic specifically targeting ALAS1 mRNA, reducing ALAS1 mRNA levels and leading to reductions in urinary ALA and PBG.

• #13 Acute Intermittent Porphyria Treatment & Management: Approach Considerations, Diet

  https://emedicine.medscape.com/article/205220-treatment

  Rarely, liver transplantation may be indicated for patients with intractable recurrent attacks that are life-threatening or severely affect quality of life. Liver transplantation cures AIP. […] A comprehensive rehabilitation program, overseen by a physiatrist, can help patients regain functional independence after attacks of AIP. […] Gene therapy for AIP is currently under investigation. A phase I trial using intravenous delivery of normal PBGD genes to hepatocytes using an adeno-associated virus vector confirmed the safety and tolerability of this approach, but demonstrated the need for higher doses and/or more efficient vectors in order to achieve full clinical benefit.

• #14 NICE approves RNAi therapy for porphyria – Genomics Education Programme

  http://www.genomicseducation.hee.nhs.uk/blog/nice-approves-rnai-therapy-for-porphyria/

  The National Institute for Health and Care Excellence (NICE) has recommended the use of a gene therapy to treat NHS patients affected by acute hepatic porphyria (AHP), an inherited condition affecting the production of haem, an important part of haemoglobin. The treatment works by targeting a specific gene and stops it from creating the enzyme that causes the condition. […] The current treatment for AHP is haem arginate. It works by replenishing the bodys haem stores so that the body makes less haem, in turn making the pathway that creates porphyrins less active. […] A clinical trial has shown that a new treatment, givosiran, can prevent up to 74% of acute porphyria attacks. The treatment was approved by the European Medicines Agency last year, and NICE is recommending it for patients who are affected by four or more attacks per year as a starting point.

• #15 Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03284-w

  Givosiran, a subcutaneously administered RNA interference therapeutic targeting liver ALAS mRNA, is approved for treating these disorders. […] Givosiran therapy reduced annualized rates of porphyria attacks and hemin use by 97% and 96%, respectively. […] In the longest follow-up of givosiran-treated patients reported to date, the therapy maintained an acceptable safety profile and demonstrated sustained improvements in clinical outcomes over 4 years in patients with acute intermittent porphyria. […] Givosiran is a subcutaneously administered RNA interference therapeutic approved for treatment of AHP in adults. […] Givosiran lowers ALAS1 messenger RNA (mRNA) expression in the liver, thereby preventing accumulation of ALA and PBG. […] Long-term monthly treatment with givosiran led to continuous and sustained reductions in AAR and hemin use over time in patients with AIP.

• #16 Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03284-w

  Overall, once-monthly givosiran 2.5 mg/kg reduced the AAR by 97% relative to the run-in period of the Phase 1 parent study. […] Substantial reductions in hemin use rates were observed with once-monthly givosiran 2.5 mg/kg; overall, hemin use decreased by 97% in the OLE study relative to the run-in period of the Phase 1 study. […] The mean EQ-VAS improved from 68.9 points at Phase 1 study baseline to 84.4 points by the end of long-term givosiran treatment in the OLE study, representing a mean increase of 15.8 points. […] This longest follow-up of patients with AIP receiving monthly givosiran therapy (up to 48 months) demonstrated acceptable safety, durable clinical responses, and improvements in QoL assessment scores.

• #17 Acute Intermittent Porphyria | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27443

  Some studies are looking for other alternatives. […] Enzyme Replacement Therapy [ERT] – Based on the experience of administering doses of recombinant human HMBS/PBGD (rhPBGD) protein in a mouse model of AIP that reduced plasma PBG accumulation during an acute attack induced after phenobarbital challenge, in 2002 the European Medicines Agency (EMA) granted recombinant human HMBS/PBGD an orphan designation. […] Liver Gene Therapy – Clinical trials using two strategies, HMBS-gene therapy and interference RNA for ALAS1 gene inhibition, are being conducted in patients with AIP.

• #18 Management of hyponatremia associated with acute porphyria—proposal for the use of tolvaptan

  https://atm.amegroups.org/article/view/50671/html

  The administration of intravenous human hemin, (heme arginate, Normosang in Europe and crystallized hemin, Panhematin in the US, both from Recordati) down-regulates hepatic ALAS1 transcription, inhibits ALAS1 mRNA translation and the translocation of the ALAS1 protein precursor into the mitochondria. […] The last treatment option is the increase in free water clearance using tolvaptan. […] Tolvaptan is a selective ADH antagonist, which acts by binding to renal vasopressin V2 receptor. […] It has been shown to be useful in hyponatremia associated with SIADH of any etiology, and in hyponatremia associated with heart failure, liver disease and post-operative situations resulting from different surgeries. […] Tolvaptan is formulated in tablets of 15 and 30 mg, with daily doses ranging between 7.5 and 60 mg, always administered in a single dose.

• #19 Porphyria cutanea tarda and hepatoerythropoietic porphyria: Management and prognosis – UpToDate

  https://www.uptodate.com/contents/porphyria-cutanea-tarda-and-hepatoerythropoietic-porphyria-management-and-prognosis

  Porphyria cutanea tarda (PCT; previously called symptomatic porphyria, chemical porphyria, toxic porphyria) is the most common and the most readily treated porphyria. PCT is a cutaneous porphyria caused by deficient activity of uroporphyrinogen decarboxylase (UROD) in the liver. […] This topic discusses the management and prognosis of PCT and HEP. The pathogenesis, clinical manifestations, and diagnostic evaluation are presented separately. Management of PCT is highly specific.

• #20 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. Remissions may last from several months to many years. If symptoms recur, repeat treatment can restore remissions. […] 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. Venesections may be scheduled at intervals ranging from twice weekly to once every 2-3 weeks as tolerated by the patient.

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

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

  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. […] 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. […] A pilot study of the oral iron-chelating agent deferasirox in 10 patients with PCT found that seven patients who completed the 6-month trial noted resolution of blistering, six had lesser urinary porphyrin content, and seven had reduced serum ferritin levels.

• #22 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Treatment-of-Porphyria-cutanea-tarda.aspx

  Porphyria cutanea tarda (PCT) is a common form of hepatic porphyria characterized by symptoms such as fragile, blister-prone skin particularly on sun-exposed areas. […] There is no established cure for PCT; however, it is still considered as one of the most manageable porphyrias and the prognosis is very promising. The treatment approaches include: […] Phlebotomy this is the frontline treatment for PCT. The procedure involves blood removal via a vein. As the red blood cells contain such a considerable proportion of the bodys iron repeated phlebotomies (venesection) can be effective in lowering the bodys iron levels. […] Improvement could take 12-24 weeks. […] Anti-malaria Treatment this is generally seen as an option when the patient is not eligible for phlebotomies, e.g. if the patient is anemic. A low dosage regime of chloroquine (125mg) or hydroxychloroquine (100mg) is recommended twice a week to reduce excess hepatic porphyrins.

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

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

  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. […] Renal transplantation has been effective at reducing porphyrin levels and improving cutaneous photosensitivity in cases of PCT occurring in patients with ESRD. […] Iron-rich foods such as red meats should be consumed sparingly. […] Patients should avoid sunlight exposure until biochemical and clinical remission has been induced. […] Consultation with a dermatologist for a skin examination, as well as biopsies sent for hematoxylin and eosin (HE) staining and direct immunofluorescence, is indicated.

• #24 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Treatment-of-Porphyria-cutanea-tarda.aspx

  Antiviral treatment the treatment of concomitant Hepatitis C infection with interferon alpha and ribavirin therapy has been shown to be favorable in some with PCT by resulting in a decrease in cutaneous lesions. […] Iron chelators These are drugs that bind to iron in the body and alter its water solubility to allow its expulsion through the kidneys. Therapy with iron chelators is less effective than phlebotomy or anti-malarials in treating PCT cases.

• #25 Porphyria Cutanea Tarda – Hormonal and Metabolic Disorders – MSD Manual Consumer Version

  https://www.msdmanuals.com/home/hormonal-and-metabolic-disorders/the-porphyrias/porphyria-cutanea-tarda

  Porphyria cutanea tarda is the most readily treated porphyria. […] Removing blood (phlebotomy), giving chloroquine (or hydroxychloroquine), or doing both is helpful. […] Avoiding alcohol and other precipitating factors is beneficial. People should avoid sun exposure as much as possible and should wear hats and clothing to protect themselves from sun exposure. Sunscreens containing zinc oxide or titanium oxide may be helpful. Typical sunscreens that block ultraviolet light are ineffective, but sunscreens that absorb ultraviolet A light, such as those containing dibenzoylmethanes, may be effective. […] For people with hepatitis C virus infection or HIV infection, treating these disorders with antiviral medication helps the porphyria. […] A procedure called phlebotomy, in which a pint (almost half a liter) of blood is removed, is the most widely recommended treatment.

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

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

  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. […] Phlebotomy should be continued until the serum ferritin level has reached the lower border of reference range values. Clinical remission may not be complete until several weeks to months after biochemical remission has been reached.

• #27 Porphyria – Wikipedia

  https://en.wikipedia.org/wiki/Porphyria

  The rarest is congenital erythropoietic porphyria (CEP), otherwise known as Gunther’s disease. […] Pharmaceutical-grade beta carotene may be used in its treatment. […] A bone marrow transplant has also been successful in curing CEP in a few cases, although long-term results are not yet available. […] In December 2014, afamelanotide received authorization from the European Commission as a treatment for the prevention of phototoxicity in adult patients with EPP. […] In a 2023 industry-funded phase 2 trial, dersimelagon, an orally administered, selective melanocortin 1 receptor agonist that increases levels of skin eumelanin, was reported to have increased the duration of symptom-free sunlight exposure and quality of life compared to placebo in patients with erythropoietic protoporphyria.

• #28 Porphyria – British Liver Trust

  https://britishlivertrust.org.uk/information-and-support/liver-conditions/porphyria/

  Treatment of cutaneous porphyrias is aimed at reducing the amount of porphyrins in your body to help eliminate your symptoms. This may include: phlebotomy, also called venesection, a procedure similar to that used for blood donation in which a quantity of blood (usually up to 500 millilitres) is drawn into a blood donation bag via a needle placed in a vein in your arm. It is carried out to reduce the amount of iron in your body. Phlebotomy is most commonly used for PCT, blood transfusion, the opposite treatment to phlebotomy. This is used for CEP in order to treat anaemia, in which you lack enough red blood cells, a low dose of chloroquine, a drug given in tablet form twice a week, beta carotene, given daily for EEP. Made from the orangey-yellow pigment that gives many fruits and vegetable their colour, beta carotene is converted by the body into vitamin A, to promote healthy skin and eyes and to increase your skins tolerance to sunlight. It may also colour your own skin a slight orangey shade, a bone marrow transplant may be required for people with CEP, where the abnormal gene involved may also affect the formation of bone marrow.

• #29 Treatment Options – American Porphyria Foundation

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

  While a high carbohydrate diet is recommended for patients with Porphyria, it is not regarded as highly effective by itself. […] 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. […] GIVLAARI is a treatment used to reduce acute hepatic porphyria (AHP) attacks in adults. […] GIVLAARI is a double-stranded small interfering RNA (siRNA) therapeutic specifically targeting ALAS1 mRNA, reducing ALAS1 mRNA levels and leading to reductions in urinary ALA and PBG. […] SCENESSE is a prescription medication that contains the active substance afamelanotide. […] SCENESSE acts by increasing the levels of eumelanin in the skin, shielding against UV radiation (UVR) and visible light, including sunlight. […] 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.

• #30 The porphyrias – British Porphyria Association

  http://porphyria.org.uk/the-eight-porphyrias/

  Although porphyria cant be cured, in some of the porphyrias, a number of lifestyle changes can help to minimise the chance of triggering symptoms. Treatment for symptoms depends on the type of porphyria. […] The condition cannot be cured, however, symptoms and their severity will vary from patient to patient. […] The condition cannot be cured, however, symptoms and their severity will vary from patient to patient. Most people with VP will never have any problems. […] Management of CEP is tricky. Treatment is mainly symptomatic and consists of careful light protection and transfusions for haemolytic anaemia. […] The only curative treatment option for CEP is Bone Marrow Transplant (BMT) or Hematopoietic Stem Cell Transplant (HSCT). When successful, this can result in marked reduction in porphyrin levels to normal levels if fully engrafted. However, the procedure is associated with numerous risks and is usually only performed in severe transfusion-dependent patients.

• #31 Integrative Medicine Treatment Options Approach for Porphyria

  https://www.rupahealth.com/post/integrative-medicine-treatment-options-approach-for-porphyria

  Porphyria encompasses rare genetic disorders with varying, often misleading symptoms that differ based on the type and individual. Some carriers of the porphyria gene change never exhibit symptoms. Here are the specifics of some types (2,3): […] Integrative management for porphyria emphasizes a holistic approach that combines diet, lifestyle, and protective measures to manage the condition. Diet is paramount as it plays a key role in the management of the condition. Regular intake of balanced meals containing carbohydrates, protein, fruits, vegetables, and minimal fats can help stabilize the condition. Of particular importance is maintaining adequate hydration and proper sodium intake to help manage metabolic changes during porphyria episodes. People with acute forms of porphyria, like AIP, HCP, VP, and ALAD Porphyria, should avoid low-calorie diets or prolonged periods without food, as these could trigger episodes. Maintaining a desirable body weight through regular meals and avoiding alcohol, which can exacerbate symptoms, is also advised (14,15).

• #32 Integrative Medicine Treatment Options Approach for Porphyria

  https://www.rupahealth.com/post/integrative-medicine-treatment-options-approach-for-porphyria

  Those with acute porphyria variants, including AIP, VP, ADP, and HCP, should exercise caution with medications, as numerous drugs can trigger acute episodes. This caution, however, does not apply to individuals with PCT, EPP, XLEPP, or CEP. It is imperative to consult with healthcare professionals when considering any medication or management strategy. This applies not only to prescribed drugs but also to over-the-counter medications, tonics, and even herbal remedies, as some of these have been known to induce episodes. Unless the safety of a herbal remedy is guaranteed, it’s recommended to avoid them altogether. A list of safe medications was compiled by the UK Porphyria Medicines Information Service (UKPMIS), which the Welsh Medicines Information Centre manages. They created this list for easy reference, ensuring that those with acute porphyria variants have a reliable guide to medicines that won’t trigger their conditions (20).

• #33 Porphyria – NIDDK

  https://www.niddk.nih.gov/health-information/liver-disease/porphyria

  How do doctors treat porphyrias? […] Treatment for porphyria will depend on what type of porphyria you have and how severe your symptoms are. […] Doctors most often treat acute porphyria attacks in a hospital. Treatment may include medicines that typically relieve symptoms in 3 or 4 days. […] To prevent future attacks, your doctor may recommend avoiding medicines that are unsafe for people who have porphyria. Talk with your doctor before you take any over-the-counter or prescription medicines, dietary supplements, or complementary or alternative medicines, such as herbal or botanical medicines. […] eating a balanced diet and avoiding fasting or extreme diets. […] avoiding smoking. […] avoiding heavy alcohol use. Experts recommend no more than one drink per day for women and no more than two drinks per day for men.

• #34 Porphyria – NIDDK

  https://www.niddk.nih.gov/health-information/liver-disease/porphyria

  medicines to help reduce the number of future attacks. Some medicines prescribed to reduce the number of attacks can be costly. Talk with your doctor about your health insurance coverage. […] In rare cases, doctors may recommend a liver transplant. Doctors only recommend a liver transplant if a person has repeated, severe attacks and other treatments don’t work. […] If you have a type of acute porphyria that causes skin symptoms, treatment may include protecting your skin from sunlight. […] If you have any type of cutaneous porphyria, your doctor will recommend steps to protect your skin from sunlight. […] Doctors typically treat porphyria cutanea tarda either with phlebotomy, which typically involves drawing about a pint of blood every 2 weeks until iron levels in the body have been reduced, or with medicines.

• #35 Porphyrias: Symptoms and Treatment | Doctor

  https://patient.info/doctor/porphyrias

  Oral glucose and intravenous glucose suppress the activity of aminolaevulinic acid synthase (the first enzyme in the haem pathway) and therefore reduce the overproduction of porphyrins and the precursors formed prior to the enzyme block. This can lead to remission. […] Haem arginate should be commenced early in an attack. It also suppresses the activity of ALA synthase. Most patients with uncomplicated attacks improve within five days. Generally this is well tolerated but it may cause phlebitis around the injection site and coagulopathy. Anaphylaxis has occurred. […] Attacks during pregnancy have been treated without any apparent adverse effects to either mother or child; however, adverse pregnancy outcomes do appear to be more frequent in women with porphyria. […] Complication management

• #36 Porphyria Cutanea Tarda – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/the-porphyrias/porphyria-cutanea-tarda

  Patients with overt PCT and hepatitis C infection should be evaluated for treatment with direct-acting antiviral drugs. […] Children with symptomatic PCT are rarely encountered, but they are treated with small-volume phlebotomies or oral chloroquine; dosage is determined by body weight. […] Skin symptoms occurring during pregnancy are treated with phlebotomy. […] Pre- or postmenopausal estrogen supplementation or other estrogen therapy, such as for men with prostate cancer, is interrupted during treatment for PCT. […] Cimetidine has been suggested as a treatment of PCT, because it is believed cimetidine down-regulates hepatic ALA synthase-1. However, hepatic ALA synthase-1 is not measurably up-regulated in PCT. Thus, routine use of cimetidine in management of PCT is not recommended.

• #37 Acute Hepatic Porphyria (AHP) – IFFGD

  https://iffgd.org/gi-disorders/other-disorders/acute-hepatic-porphyria/

  When someone with AHP is experiencing an acute attack, treatment with intravenous (IV) hemin in the hospital can help with symptoms. […] A drug called Givosiran (Givalaari) was approved by the U.S. Food and Drug Administration in 2019 for the treatment of adults with AHP. […] While taking givosiran, patients should have their liver and kidney tests monitored by their healthcare team. […] For patients with AHP who suffer from repeated severe attacks, do not respond to IV hemin or givosiran, or have a very poor quality of life, liver transplantation can be considered as a last resort.

• #38

  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. […] Haem arginate (Normosang) is currently the only specific treatment available to treat attacks of acute porphyria in the UK. […] 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.

• #39 New Acute Hepatic Porphyria treatments 2025 | Everyone.org

  https://everyone.org/explore/treatment/?id=68

  Treatment options for Acute Hepatic Porphyria focus primarily on managing symptoms, preventing acute attacks, and reducing the buildup of toxic porphyrins. Intravenous administration of hemin (Panhematin) is a common and effective treatment during acute attacks, as it helps suppress porphyrin production in the liver. A newer medication, givosiran (Givlaari), has been approved specifically for adults with AHP, reducing the frequency of acute attacks by targeting and decreasing the production of toxic porphyrins. […] Currently, the U.S. Food and Drug Administration (FDA) has approved specific treatments for managing Acute Hepatic Porphyria. Among these, Givlaari (givosiran) represents a significant advancement in the treatment of AHP. Givlaari is an RNA interference (RNAi) therapeutic that specifically targets and reduces the hepatic ALAS1 enzyme, thereby decreasing the production of toxic intermediates.

• #40 New Acute Hepatic Porphyria treatments 2025 | Everyone.org

  https://everyone.org/explore/treatment/?id=68

  Another FDA-approved medication, Panhematin (hemin for injection), has been used for decades to manage acute porphyria attacks. It works by replenishing the body’s heme pool, thereby suppressing the hepatic ALAS1 enzyme and reducing the production of toxic intermediates. […] In addition to targeted therapies, supportive care remains a cornerstone of AHP management. Intravenous glucose infusions can help suppress ALAS1 activity and are often used as first-line supportive therapy during mild attacks or as adjunctive therapy. […] For patients experiencing frequent, severe, and life-threatening attacks that do not respond adequately to standard therapies, liver transplantation may be considered. […] Gene therapy represents an exciting experimental approach currently under investigation. […] Hormonal suppression therapies, such as Gonadotropin-Releasing Hormone (GnRH) analogues, have been used off-label to stabilize hormone levels and potentially reduce attack frequency.

• #41 Porphyria – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/porphyria/symptoms-causes/syc-20356066

  Although porphyria can’t be cured, medicines and certain lifestyle changes may help you manage it. Treatment for symptoms depends on the type of porphyria you have. […] Possible complications depend on the form of porphyria: […] In rare cases, a bone marrow transplant or liver transplant may be needed. […] Although there’s no way to prevent porphyria, if you have the condition, avoid triggers to help prevent symptoms.

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