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• #1 Porphyria – Wikipedia

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

  Porphyria is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. Symptoms of an attack include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure, and high heart rate. The attacks usually last for days to weeks. Complications may include paralysis, low blood sodium levels, and seizures. Attacks may be triggered by alcohol, smoking, hormonal changes, fasting, stress, or certain medications. […] Acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD) and hereditary coproporphyria (HCP). These diseases primarily affect the nervous system, resulting in episodic crises known as acute attacks. The major symptom of an acute attack is abdominal pain, often accompanied by vomiting, hypertension (elevated blood pressure), and tachycardia (an abnormally rapid heart rate).

• #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. […] In most cases, a combination of genetic and environmental factors trigger porphyria symptoms. […] Symptoms vary from one type of porphyria to the next. […] Acute porphyrias generally occur during adulthood and are rare before puberty or after menopause. […] Symptoms of acute porphyrias may include: muscle pain or paralysis, seizures, disorientation, hallucination, bloody (red) urine, hypertension, gastrointestinal problems such as vomiting, abdominal pain and constipation. […] Cutaneous porphyrias may develop during childhood. […] Symptoms may include: red, itchy, blistered, painful and swollen skin, bloody (red) urine. […] Neurocutaneous porphyrias affect both the skin and the nervous system.

• #1 Porphyria – Symptoms and causes – Mayo Clinic

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

  Symptoms of porphyria vary, depending on the specific type of porphyria and how severe it is. […] Symptoms can vary widely by type of porphyria and in how severe the symptoms are. Symptoms also can vary among people with the condition. Some people with a gene change that causes porphyria never have any symptoms. […] Acute porphyrias include forms of the disease that usually cause nervous system symptoms. A few forms also can affect the skin. Symptoms appear quickly and can be severe. Symptoms may last hours, days or weeks. […] The most common form of acute porphyria is called acute intermittent porphyria (AIP). AIP may last hours or days. Intermittent means that the symptoms may go away but return later. When the symptoms occur they are sometimes called attacks. […] Symptoms of acute porphyrias may include: Severe pain in the belly, chest, legs or back. Digestive problems, such as constipation, nausea and vomiting. Muscle pain, tingling, numbness, weakness or paralysis. Red or brown urine. Mental changes, such as anxiety, hallucinations or mental confusion. Rapid or irregular heartbeats you can feel, called palpitations. Breathing problems. High blood pressure. Seizures.

• #1 Porphyria – Symptoms and causes – Mayo Clinic

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

  Cutaneous porphyrias include forms of the disease that cause skin symptoms as a result of sensitivity to sunlight. These forms usually don’t affect the nervous system. Porphyria cutanea tarda (PCT) is the most common type of all the porphyrias. […] Sun exposure may cause: Sensitivity to the sun and sometimes artificial light, causing burning pain in the skin. Sudden painful skin redness and swelling. Blisters on exposed skin, usually the hands, arms and face. Fragile thin skin with changes in skin color. Itching. Too much hair growth in affected areas. Red or brown urine. […] Erythropoietic protoporphyria (uh-rith-roe-poi-ET-ik pro-toe-por-FEAR-e-uh), also called EPP, is a rare type of cutaneous porphyria. It’s the most common childhood porphyria. Sun or artificial light exposure quickly results in painful skin burning, irritation and swelling. Small bumps and blisters also appear. Repeated exposures can cause thick, leathery skin and scarring. […] Many symptoms of porphyria are like those of other, more common conditions. This can make it difficult to know if you’re having an attack of porphyria. If you have symptoms that could be porphyria, get medical attention. Prompt treatment is important.

• #1 Acute porphyria | International Porphyria Network

  https://new.porphyrianet.org/en/content/acute-porphyria

  Acute porphyria is a term that includes three similar, rare inherited conditions: acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP), and a fourth extremely rare porphyria called ALA dehydratase deficiency porphyria. They are grouped together because acute attacks of porphyria may occur in each one. Acute intermittent porphyria is the most common type of acute porphyria. In this condition, acute attacks may occur, but the skin is not affected. People with variegate porphyria and hereditary coproporphyria may experience acute attacks and/or skin problems, but not necessarily at the same time. Attacks and skin problems only affect some people with acute porphyria and most never have any symptoms at all. […] Acute attacks almost always start with severe pain, which is usually in the abdomen but may also be felt in the back or thighs. Nausea, vomiting and constipation are common. Some people have difficulty sleeping or become agitated or confused. Pulse rate and blood pressure are often increased. In severe attacks, there can be complications such as convulsions, or muscular weakness which may occasionally lead to paralysis. An acute attack usually lasts for no longer than one or two weeks. Severe attacks can occasionally be life threatening if there are serious complications like paralysis. However nowadays most patients recover from paralysis provided they receive appropriate treatment, although this takes many months.

• #1 Acute Hepatic Porphyria Types & Symptoms | Pinpoint AHP®

  https://www.porphyria.com/about-ahp

  Acute hepatic porphyria (AHP) refers to a family of rare genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic debilitating symptoms that negatively impact daily functioning and quality of life. […] The symptoms of AHP often resemble those of other diseases in the gastrointestinal, gynecological, and neurological or neuropsychiatric areas. Severe symptoms can lead to hospitalizations and unnecessary surgeries or procedures. Misdiagnosis is common, and people with AHP can wait years for an accurate and confirmed diagnosis. […] Acute attacks can be life-threatening and can last for days. Acute attacks are not the only sign of AHP; some people with AHP also experience debilitating symptoms daily, even when they are not having attacks. This is part of what makes diagnosis difficult.

• #1 Acute Porphyrias – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/the-porphyrias/acute-porphyrias

  Acute porphyrias result from deficiency of certain enzymes in the heme biosynthetic pathway, resulting in accumulation of heme precursors that cause intermittent attacks of abdominal pain and neurologic symptoms. […] Symptoms and signs of acute porphyrias involve the nervous system, abdomen, or both (neurovisceral). Attacks develop over hours or days and can last up to several weeks. […] The most common symptoms of an attack are generalized abdominal pain and vomiting. […] Abdominal pain may be excruciating and is disproportionate to abdominal tenderness or other physical signs. […] A minority of patients with acute hepatic porphyrias also develop acute pancreatitis. […] All components of the peripheral nervous system and the central nervous system may be involved. Motor neuropathy is common with severe and prolonged attacks.

• #1 AHP Signs & Symptoms | Porphyria Diagnosis™

  https://www.porphyria.com/hcp/signs-and-symptoms

  92% of patients with acute hepatic porphyria report severe, diffuse abdominal pain […] 90% of patients report abdominal pain during AHP attacks (mimics acute abdomen but without specialized localization)1,2,7 AHP=acute hepatic porphyria. […] In addition to severe, diffuse abdominal pain without fever or leukocytosis, other common symptoms of AHP include nausea and vomiting, limb weakness or pain, anxiety, confusion, and skin lesions on sun-exposed areas (HCP and VP primarily). Tachycardia and hyponatremia are often present in acute attacks of AHP.2,3,6 […] In a large natural history study of patients with recurrent attacks, 65% of patients reported chronic symptoms in between attacks (including pain), and 46% reported experiencing symptoms every day. […] Long-term complications of AHP may include chronic hypertension, chronic kidney disease, hepatocellular carcinoma, and psychological problems.

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

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

  Porphyria refers to a group of disorders (often genetic) that affect your nervous system and/or skin. Acute porphyrias cause painful attacks that can last days or weeks. Cutaneous porphyrias make your skin sensitive to light and cause symptoms like pain, swelling and blisters. Treatment can help manage and prevent symptoms. […] The specific symptoms you experience and how long they last depend on the type of porphyria you have. Symptoms range from mild to severe. Some people with porphyria have no symptoms. In some cases, symptoms can be life-threatening unless treated. […] Possible symptoms during an acute porphyria attack include: Abdominal pain, which may be severe, Nausea and vomiting, Constipation, Pain in your chest, back, arms and/or legs, Anxiety, Insomnia, Confusion, agitation, hallucinations or other changes in mental function, Fatigue, Fast heart rate (tachycardia), High blood pressure, Numbness, tingling or pins and needles sensations (paresthesia), Muscle weakness or paralysis, which may affect muscles that control breathing, Seizures, Dark or red pee, which changes color from the presence of porphyrins and other chemicals.

• #1 Symptoms of PorphyriaEnvelope icon

  https://porphyrianews.com/symptoms-porphyria/

  Mental status changes associated with this group of porphyrias typically consist of, but are not limited to, anxiety, confusion, hallucinations, disorientation, and paranoia. […] Breathing problems, seizures, and high blood pressure may occur in people with acute porphyrias. Palpitations — noticeably irregular heartbeats that often feel like the heart is racing, pounding, fluttering, or skipping beats — also are a common occurrence in these patients. […] Symptoms involving the skin characterize — and give name to — cutaneous porphyrias. These symptoms arise from the excessive amounts of porphyrins that are transported to the skin. After reaching the skin, porphyrins absorb light and enter in a high-energy “excited” state, in which they are able to damage nearby tissue. […] Sensitivity to sunlight, and less commonly to artificial light, may cause patients with cutaneous porphyrias to experience a painful burning sensation. Sudden and painful redness, swelling, itching, and skin changes (color and fragility) are common in these patients. Cutaneous porphyrias may cause blisters to form on exposed skin areas, most often in the hands, arms, and face. Some patients also may have excessive hair growth in affected areas.

• #1 What Hematologists Need to Know About Acute Hepatic Porphyria – Hematology & Oncology

  https://www.hematologyandoncology.net/archives/november-2016/what-hematologists-need-to-know-about-acute-hepatic-porphyria/

  One of the most common symptoms is acute abdominal pain that is poorly localized and very severe. […] Patients also may experience nausea, vomiting, constipation, or pain in the chest or back. They also can have significant autonomic dysfunction, including tachycardia and hypertension. Patients also may develop paresis or acute motor neuropathy, and may experience changes in mental status, such as behavioral changes, agitation, or hallucinations. If patients do not receive appropriate treatment, there is a possibility that neuropathy could progress and even lead to respiratory paralysis. […] Another important early sign of this disorder is hyponatremia. This is often seen when patients present with acute attacks, and can be one of the first clues leading to diagnosis. Hyponatremia presumably occurs because of the syndrome of inappropriate antidiuretic hormone secretion (SIADH) or because of loss of sodium in the gastrointestinal tract or kidneys. It is very important to monitor patients with hyponatremia because they can develop seizures. […] The overall prognosis is good because specific treatment is available, but symptoms must be recognized and managed correctly. Delays in diagnosis and treatment may result in chronic complications that can be very debilitating for patients.

• #1 Porphyria – NIDDK

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

  Symptoms of acute porphyria can be mild or severe, lasting days or weeks. Times when symptoms occur are called attacks. Without early treatment, symptoms of an attack may become more severe and even life-threatening. Symptoms may include […] pain in the abdomen, back, or arms and legs […] digestive symptoms, such as constipation, nausea, and vomiting […] mental changes, such as anxiety, confusion, hallucinations, and seizures […] problems with nerves that control movement, which may cause muscle weakness, paralysis, and breathing problems […] urinary symptoms, such as dark or reddish-brown urine, urinary retention, or incontinence […] skin blisters when skin is exposed to sunlight, for people with variegate porphyria or hereditary coproporphyria. […] In people with porphyria cutanea tarda, congenital erythropoietic porphyria, or hepatoerythropoietic porphyria, areas of skin exposed to sunlight may develop symptoms such as […] blisters […] fragile skin that is easily wounded and slow to heal […] infection of blisters or wounds […] scarring or changes in skin color.

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

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

  Long-term complications of acute porphyria include high blood pressure, kidney failure and in rare cases liver cancer. […] An attack might last for three to seven days. But its possible for it to last much longer especially if untreated and symptoms can take weeks to months to resolve. You might have one or just a few attacks throughout your life. But its also possible to have multiple attacks within a single year. […] This severe type of porphyria starts showing symptoms shortly after birth or at a very young age. The first visible sign is usually red urine. Babies tend to have red-stained diapers, often prompting providers to test for a urinary tract infection. […] Other CEP signs and symptoms include: Severe skin blisters after minimal sun or fluorescent light exposure, Infection of blisters, leading to bone infections and bone loss, Loss of facial structures (ear and nose cartilage), Gray-brown discoloration of teeth, Anemia (low red blood cell count), in some cases requiring blood transfusion, Enlargement of the spleen, Low platelet count.

• #1 Porphyria – NIDDK

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

  Protoporphyrias—erythropoietic protoporphyria and x-linked protoporphyria—typically do not cause blisters. Instead, skin exposed to sunlight may develop symptoms such as […] pain, burning, stinging, or tingling […] redness […] swelling. […] Most people with acute porphyria only have one or a few attacks throughout their lives. Among people diagnosed with acute porphyria after one attack, about 3 to 5 percent will have four or more attacks in a year. […] Factors that may increase the chance of getting acute porphyria attacks or make attacks worse include female sex hormones, especially progesterone; certain medicines; a lowered intake of carbohydrates; drinking alcohol; and smoking. […] For porphyria cutanea tarda, treating the disease can help prevent liver problems. Porphyria cutanea tarda and acute porphyria can increase the risk of developing liver cancer. Depending on your risk, your doctor may recommend blood tests and an ultrasound or another type of imaging test to check for liver cancer. Finding cancer at an early stage improves the chance of curing the cancer.

• #1 Acute porphyria | International Porphyria Network

  https://new.porphyrianet.org/en/content/acute-porphyria

  Most people who inherit acute porphyria will never experience an acute attack. In those who do become ill, additional factors are usually required for an attack to occur. Our knowledge of these factors/triggers is incomplete but among the most important are a number of medicines, alcohol, stress, fasting or restricting calorie intake, infections and smoking. Attacks are more common in women of child-bearing age due to normal hormonal changes of the menstrual cycle or associated with pregnancy. […] Early recognition of an acute attack allows treatment to be started as soon as possible. The first symptoms are often easily recognised by those who have previously experienced an attack. If you think you have early symptoms of an attack, you should try to continue eating and drinking if you can, and it may be helpful to boost your intake of sugary and starchy foods. You should not drink any alcohol.

• #1 AHP Signs & Symptoms | Porphyria Diagnosis™

  https://www.porphyria.com/hcp/signs-and-symptoms

  Patients with AHP may have an increased risk of suicide related to comorbidities of psychiatric symptoms and chronic pain.16 […] The signs and symptoms of AHP can mimic those of numerous common diseases, such as irritable bowel syndrome, endometriosis, fibromyalgia, and psychiatric disorders. These similarities can lead to misdiagnoses.1,17,18 […] Delayed diagnosis and misdiagnoses can lead to unnecessary procedures. The symptoms of AHP often resemble those of other diseases in the gastrointestinal, gynecological, and neurological or neuropsychiatric areas. Severe symptoms can lead to hospitalizations and unnecessary procedures. Misdiagnosis is common, and people with AHP can wait years for an accurate and confirmed diagnosis. […] Long-term chronic pain, emotional stress, comorbid depression and anxiety, and fear of unpredictable attacks contribute to a lower QoL for some patients with AHP.

• #1 Porphyria – Wikipedia

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

  Skin disease is encountered where excess porphyrins accumulate in the skin. Porphyrins are photoactive molecules, and exposure to light results in promotion of electrons to higher energy levels. When these return to the resting energy level or ground state, energy is released. This accounts for the property of fluorescence typical of the porphyrins. This causes local skin damage. […] Two distinct patterns of skin disease are seen in porphyria: Immediate photosensitivity. This is typical of XLDPP and EPP. Following a variable period of sun exposure typically about 30 minutes patients complain of severe pain, burning, and discomfort in exposed areas. […] Vesiculo-erosive skin disease. This a reference to the characteristic blistering (vesicles) and open sores (erosions) noted in patients is the pattern seen in CEP, PCT, VP, and HCP. The changes are noted only in sun-exposed areas such as the face and back of the hands. Milder skin disease, such as that seen in VP and HCP, consists of increased skin fragility in exposed areas with a tendency to form blisters and erosions, particularly after minor knocks or scrapes. These heal slowly, often leaving small scars that may be lighter or darker than normal skin. More severe skin disease is sometimes seen in PCT, with prominent lesions, darkening of exposed skin such as the face, and hypertrichosis: abnormal hair growth on the face, particularly the cheeks. The most severe disease is seen in CEP and a rare variant of PCT known as hepatoerythropoietic porphyria (HEP); symptoms include severe shortening of digits, loss of skin appendages such as hair and nails, and severe scarring of the skin with progressive disappearance of ears, lips, and nose. Patients may also show deformed, discolored teeth or gum and eye abnormalities.

• #1 Porphyria cutanea tarda: Causes, symptoms, and diagnosis

  https://www.medicalnewstoday.com/articles/318543

  The liver normally removes the toxic porphyrins from the blood and secretes them in bile. So, an increased number of porphyrins in the body can damage the liver. […] People with PCT may develop problems such as hepatic siderosis, which is the accumulation of iron in the liver, and steatosis, the accumulation of fat in the liver. […] Advanced liver disease is rare, although older people who have experienced multiple PCT attacks are at greater risk.

• #1 About Porphyria – American Porphyria Foundation

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

  Porphyria arises as a result of a malfunction in one of the eight steps in the body’s synthesis of a complex molecule called heme. […] For many with one of the four acute Porphyrias, Porphyria attacks generally evolve and become more severe over several days, especially the abdominal pain; two of these, Variegate Porphyria and Hereditary Coproporphyria, may also have skin symptoms of blistering after sun exposure. […] Approximately 80-90% of individuals who carry a gene mutation for Acute Intermittent Porphyria, Variegate Porphyria, and Hereditary Coproporphyria remain asymptomatic, and others may have only one or a few acute attacks throughout life. The most frequent symptom is severe abdominal pain and is often accompanied by nausea, vomiting, and constipation. Other symptoms may include heart palpitations, seizures, and hallucinations. People with VP and HCP may also have skin symptoms of blistering after sun exposure.

• #1 The porphyrias – British Porphyria Association

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

  […] […] Variegate porphyria is an INHERITED condition. Attacks are uncommon and often difficult to diagnose. In addition to acute symptoms, in VP the skin may also be affected. 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. Around 3 in 5 of those that do will have skin sensitivity only, while 1 in 5 will have acute attacks only and the remaining 1 in 5 have both acute attacks and skin problems. […] […] […] Hereditary coproporphyria is also an inherited condition. People with HCP are prone to acute attacks, and can have skin problems during an acute attack. […] […] […] Erythropoietic Protoporphyria (EPP) is a less common form of porphyria and classified in the UK as an ultra rare disease. Although EPP patients initially present by reporting intense burning pain and irritation in the skin, EPP is actually a metabolic disorder in the haem pathway. EPP normally manifests in early childhood, however many patients endure being undiagnosed into their 30s and beyond. An affected baby will often get fractious if taken outside, or put near bright lights, or by a window during daylight. Exposure to bright sunlight, for as little as a few minutes in the worst affected patients, causes burning pain in exposed skin. Pain may be so severe and persistent that it prevents sleep for several nights.

• #1 Variegate porphyria

  https://dermnetnz.org/topics/variegate-porphyria

  In most cases acute attacks usually begin in adulthood and can often be linked to history of a new medication. […] Signs and symptoms of variegate porphyria rarely occur in childhood, however in cases where it does occur it is usually more severe and even debilitating. […] Most people with variegate porphyria have skin that is overly sensitive to sunlight. Areas exposed to the sun often develop blistering, scarring, changes in skin colour and increased hair growth. […] Acute attacks cause severe abdominal pain, uncontrolled vomiting, diarrhoea and constipation. Neurological manifestations include muscle and limb weakness that may progress to areflexic quadriparesis (weak arms and legs), seizures, and mental changes such as anxiety and hallucinations. Other symptoms include changes in heart rate and blood pressure, and respiratory distress. Electrolyte imbalance such as low sodium and magnesium levels may be present.

• #1 About Porphyria – American Porphyria Foundation

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

  Erythropoietic Protoporphyria (EPP) can have mild to severe light sensitivity and burning on exposure to the sunlight. […] In Porphyria Cutanea Tarda (PCT), exposed skin shows abnormalities similar to those found in Variegate Porphyria. […] Congenital Erythropoietic Porphyria (CEP) is often manifested shortly after birth with dark urine and sunlight sensitivity causing blistering and skin fragility. […] ALA-D Porphyria (ADP) symptoms usually arise from effects on the nervous system and/or the skin. The most common symptom is severe abdominal pain.

• #1 Porphyria – British Liver Trust

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

  Acute attacks happen when the levels of porphyrins in your body become very elevated (increased). […] They range in severity and usually require having to go to hospital. In the worst case they may require emergency procedures to prevent death. […] There is considered to be a slightly increased risk of having an acute attack during or following pregnancy. This risk is reduced if the porphyria you have is already diagnosed and most pregnancies dont result in problems. […] The symptoms of cutaneous porphyrias and neurocutaneous porphyrias usually appear quickly following exposure to the sun. […] Skin exposed to sunlight is likely to become very fragile, where even slight contact may cause injury to your skin. Areas most at risk are those more commonly exposed, such as your face, neck, hands and feet. In some cases this can lead to permanent skin damage.

• #1 Acute porphyria | International Porphyria Network

  https://new.porphyrianet.org/en/content/acute-porphyria

  A few patients, mostly those with AIP, develop a pattern of recurrent attacks, usually defined as four or more attacks requiring admission to hospital for treatment in one or more years. In women these attacks may be related to the normal hormone changes of the menstrual cycle with symptoms typically starting in the week or so before menstruation, but in many patients, there is no clear trigger for their attacks. […] Some patients with porphyria, particularly those with recurrent acute attacks and those who have had severe porphyria in the past, experience almost continuous pain, which is believed to result from damage to nerves during past attacks. This chronic pain varies from day to day but may be severe, and flares of chronic pain may be difficult to distinguish from acute attacks. […] The skin is not affected in acute intermittent porphyria. Skin problems occur in 10-20% of adults who have inherited the gene for variegate porphyria and are often their only porphyria symptom. Areas of skin exposed to sunlight, particularly the backs of the hands, face and legs, become fragile, break easily and form blisters. Identical skin problems may occur in hereditary coproporphyria but these are usually only present during an acute attack of porphyria and are rarely persistent. […] People with acute porphyria, especially those who are most severely affected, are at risk of some long term complications including high blood pressure and reduced kidney function. There is also an increased risk of liver cancer mainly in older people.

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

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

  People with milder forms of the disease (less prominent enzyme deficiencies) rarely have chronic symptoms and may only have one or two attacks during their lifetimes. Those who are able to identify the factors that triggered their attacks can often successfully avoid them in the future. But others have more frequent attacks, and some symptoms are so frequent that they can be considered chronic. These can include: Pain, Fatigue, Nausea, Neuropathy (tingling, numbness or weakness, typically in your hands and feet). […] Symptoms related to your central nervous system, such as anxiety, hallucinations and seizures, are usually short-lived during an acute attack. Symptoms related to your peripheral nervous system, such as muscle weakness and paralysis, can be more frequent, and a severe attack can cause lasting damage. An overload of porphyrin precursors can also cause cumulative damage to certain organs, leading to: Chronic hypertension (high blood pressure), Chronic liver disease, Chronic kidney disease, Primary liver cancer, Depression and anxiety.

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

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

  Your outlook depends on: The type of porphyria you have, How severely you’re affected, Any complications that develop. […] Porphyria might have a big impact on your day-to-day life. Severe symptoms can interrupt your routine and make it hard to work, take care of your family or enjoy hobbies. You might feel exhausted, physically and mentally.

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

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

  It varies widely. Most will never develop symptoms. Among those who do, most will only experience one or a few attacks in their lifetimes. Although attacks can be life-threatening, most people recover completely with prompt medical care. About 5% of people with AHP have frequent or chronic symptoms. For these people, preventative medications are often helpful, and liver transplantation is a possible last resort.

• #1 What Causes Porphyria? Symptoms, Treatment & Causes

  https://www.emedicinehealth.com/what_causes_porphyria/article_em.htm

  Porphyria symptoms Porphyrias are typically inherited, meaning a genetic mutation is passed on from at least one parent. In rare cases, porphyrias are acquired. […] Symptoms of acute porphyria attacks may include: Abdominal pain (most common symptom), Muscle weakness, Focal neurologic deficits such as muscle weakness affecting all four extremities (tetraparesis), Psychiatric symptoms (such as psychosis and anxiety), Abnormally colored urine (turns red or dark on exposure to light), Pain in the chest, limbs, or back, Nausea and vomiting, Constipation, Urinary retention, Confusion, Hallucinations, Seizures. […] Symptoms of chronic porphyria usually involve the skin and may include: Photosensitivity (sensitivity of the skin to sunlight), Blisters on exposed areas of the skin, Itching and swelling on exposed areas of the skin. […] Symptoms of all types of porphyria may be triggered by: Alcohol use, Smoking, Certain medications or hormones, Exposure to sunlight, Stress, Dieting/fasting. […] Life expectancy depends on the type of porphyria. For many types, treatment works well and patients can live a normal life.

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

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

  Porphyria refers to a group of disorders (often genetic) that affect your nervous system and/or skin. Acute porphyrias cause painful attacks that can last days or weeks. Cutaneous porphyrias make your skin sensitive to light and cause symptoms like pain, swelling and blisters. Treatment can help manage and prevent symptoms. […] The specific symptoms you experience and how long they last depend on the type of porphyria you have. Symptoms range from mild to severe. Some people with porphyria have no symptoms. In some cases, symptoms can be life-threatening unless treated. […] Possible symptoms during an acute porphyria attack include: Abdominal pain, which may be severe, Nausea and vomiting, Constipation, Pain in your chest, back, arms and/or legs, Anxiety, Insomnia, Confusion, agitation, hallucinations or other changes in mental function, Fatigue, Fast heart rate (tachycardia), High blood pressure, Numbness, tingling or pins and needles sensations (paresthesia), Muscle weakness or paralysis, which may affect muscles that control breathing, Seizures, Dark or red pee, which changes color from the presence of porphyrins and other chemicals.

• #2 Porphyria – Wikipedia

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

  The most severe episodes may involve neurological complications: typically motor neuropathy (severe dysfunction of the peripheral nerves that innervate muscle), which leads to muscle weakness and potentially to quadriplegia (paralysis of all four limbs) and central nervous system symptoms such as seizures and coma. Occasionally, there may be short-lived psychiatric symptoms such as anxiety, confusion, hallucinations, and, very rarely, overt psychosis. All these symptoms resolve once the acute attack passes. […] The non-acute porphyrias are X-linked dominant protoporphyria (XLDPP), congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT), and erythropoietic protoporphyria (EPP). None of these is associated with acute attacks: their primary manifestation is with skin disease.

• #2 Porphyria – Symptoms and causes – Mayo Clinic

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

  Symptoms of porphyria vary, depending on the specific type of porphyria and how severe it is. […] Symptoms can vary widely by type of porphyria and in how severe the symptoms are. Symptoms also can vary among people with the condition. Some people with a gene change that causes porphyria never have any symptoms. […] Acute porphyrias include forms of the disease that usually cause nervous system symptoms. A few forms also can affect the skin. Symptoms appear quickly and can be severe. Symptoms may last hours, days or weeks. […] The most common form of acute porphyria is called acute intermittent porphyria (AIP). AIP may last hours or days. Intermittent means that the symptoms may go away but return later. When the symptoms occur they are sometimes called attacks. […] Symptoms of acute porphyrias may include: Severe pain in the belly, chest, legs or back. Digestive problems, such as constipation, nausea and vomiting. Muscle pain, tingling, numbness, weakness or paralysis. Red or brown urine. Mental changes, such as anxiety, hallucinations or mental confusion. Rapid or irregular heartbeats you can feel, called palpitations. Breathing problems. High blood pressure. Seizures.

• #2 Acute Porphyrias – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/the-porphyrias/acute-porphyrias

  Acute porphyrias result from deficiency of certain enzymes in the heme biosynthetic pathway, resulting in accumulation of heme precursors that cause intermittent attacks of abdominal pain and neurologic symptoms. […] Symptoms and signs of acute porphyrias involve the nervous system, abdomen, or both (neurovisceral). Attacks develop over hours or days and can last up to several weeks. […] The most common symptoms of an attack are generalized abdominal pain and vomiting. […] Abdominal pain may be excruciating and is disproportionate to abdominal tenderness or other physical signs. […] A minority of patients with acute hepatic porphyrias also develop acute pancreatitis. […] All components of the peripheral nervous system and the central nervous system may be involved. Motor neuropathy is common with severe and prolonged attacks.

• #2 Acute Hepatic Porphyria: Signs and Symptoms

  https://www.webmd.com/brain/acute-hepatic-porphyria-symptoms

  Serious belly pain. This is the most common symptom. The ache is usually spread out across your whole belly. It may hurt so much that your doctor will likely order blood work and imaging to make sure that there is nothing surgical that needs to be done. […] Other stomach problems. You may get nauseated or throw up, and your belly could get really swollen. A blockage in part of your small intestine is also possible. […] Muscle aches. Your neck, back, chest, butt, arms, and legs may hurt. Your pain may get worse over several days. […] Constipation or diarrhea. You may have trouble pooping. Less often, you may poop too much. […] Pee changes. Your urine may look dark or reddish. You could have a hard time peeing. […] Numbness or tingling. Nerve damage can give you a pins and needles feeling in your arms or feet.

• #2 Acute Hepatic Porphyria: Signs and Symptoms

  https://www.webmd.com/brain/acute-hepatic-porphyria-symptoms

  Weakness or paralysis. AHP can affect the nerves that control your muscles. You may get weakness in your legs, belly, and arms. Without treatment, you may lose the ability to move. […] Mood changes. You may get irritated, agitated, or feel like you need to move around. Its also common to worry a lot or feel depressed and lose interest in activities or get confused. You could also see things that arent there or get really paranoid. […] Less energy. Chronic fatigue could happen. You could get a really strong urge to sleep. Thats called somnolence. In serious cases, you could go into a coma. […] Insomnia. That means youll have trouble falling or staying asleep. […] Severe weakness. In rare cases, the muscles that control your lungs may stop working, which can affect your breathing. This is life-threatening and requires medical attention right away. […] If you have AHP for a long time, you can get serious conditions like chronic kidney disease, cirrhosis (scarring of the liver), or liver cancer.

• #2 Porphyrias: Symptoms and Treatment | Doctor

  https://patient.info/doctor/porphyrias

  Hyponatraemia (due to dehydration, nephrotoxicity or inappropriate antidiuretic hormone (ADH) secretion) can lead to confusion and convulsions. […] Agitation, mania, depression and hallucinations can occur and can persist between attacks. […] Urine may be dark or reddish due to the excessive excretion of haem precursors. […] Sudden death can occur during an acute attack and is thought to be due to cardiac arrhythmia. […] Fewer than 10% of patients have recurrent acute attacks without clearly identified precipitating factors. […] 1% of acute attacks can be fatal. Death is usually either from cardiac arrest or pneumonia associated with prolonged mechanical ventilation. […] Chronic hypertension or chronic kidney disease can develop in a small minority. […] Chronic liver damage can also occur. […] 10% of patients with AIP die from hepatocellular carcinoma.

• #2 Symptoms of PorphyriaEnvelope icon

  https://porphyrianews.com/symptoms-porphyria/

  Mental status changes associated with this group of porphyrias typically consist of, but are not limited to, anxiety, confusion, hallucinations, disorientation, and paranoia. […] Breathing problems, seizures, and high blood pressure may occur in people with acute porphyrias. Palpitations — noticeably irregular heartbeats that often feel like the heart is racing, pounding, fluttering, or skipping beats — also are a common occurrence in these patients. […] Symptoms involving the skin characterize — and give name to — cutaneous porphyrias. These symptoms arise from the excessive amounts of porphyrins that are transported to the skin. After reaching the skin, porphyrins absorb light and enter in a high-energy “excited” state, in which they are able to damage nearby tissue. […] Sensitivity to sunlight, and less commonly to artificial light, may cause patients with cutaneous porphyrias to experience a painful burning sensation. Sudden and painful redness, swelling, itching, and skin changes (color and fragility) are common in these patients. Cutaneous porphyrias may cause blisters to form on exposed skin areas, most often in the hands, arms, and face. Some patients also may have excessive hair growth in affected areas.

• #2 Acute porphyria | International Porphyria Network

  https://new.porphyrianet.org/en/content/acute-porphyria

  A few patients, mostly those with AIP, develop a pattern of recurrent attacks, usually defined as four or more attacks requiring admission to hospital for treatment in one or more years. In women these attacks may be related to the normal hormone changes of the menstrual cycle with symptoms typically starting in the week or so before menstruation, but in many patients, there is no clear trigger for their attacks. […] Some patients with porphyria, particularly those with recurrent acute attacks and those who have had severe porphyria in the past, experience almost continuous pain, which is believed to result from damage to nerves during past attacks. This chronic pain varies from day to day but may be severe, and flares of chronic pain may be difficult to distinguish from acute attacks. […] The skin is not affected in acute intermittent porphyria. Skin problems occur in 10-20% of adults who have inherited the gene for variegate porphyria and are often their only porphyria symptom. Areas of skin exposed to sunlight, particularly the backs of the hands, face and legs, become fragile, break easily and form blisters. Identical skin problems may occur in hereditary coproporphyria but these are usually only present during an acute attack of porphyria and are rarely persistent. […] People with acute porphyria, especially those who are most severely affected, are at risk of some long term complications including high blood pressure and reduced kidney function. There is also an increased risk of liver cancer mainly in older people.

• #2 Porphyria: Types, Causes, and Treatment

  https://patient.info/allergies-blood-immune/porphyria-leaflet

  You may also develop tummy (abdominal) pain which can be severe. Feeling sick (nausea), being sick (vomiting) and constipation can occur. […] Nervous system effects can lead to speeding up of your heart rate and an increase in your blood pressure. […] Some people can develop muscle weakness during an acute attack. This can affect your arms and legs and sometimes even your chest wall muscles, leading to breathing difficulty. […] You may experience mood changes including agitation and/or euphoria and sometimes depression or hallucinations. In some people, these psychiatric problems can continue between attacks. […] Rarely, sudden death can occur during an acute attack. This is thought to be due to a disturbance in the electrical activity in your heart (cardiac arrhythmia). […] It is only a minority of people with porphyria who have repeated acute attacks of porphyria. As mentioned above, some people may never have an attack and some may have one or just a few. Acute attacks can be very severe but they are rarely fatal.

• #2 Acute porphyria | International Porphyria Network

  https://new.porphyrianet.org/en/content/acute-porphyria

  Most people who inherit acute porphyria will never experience an acute attack. In those who do become ill, additional factors are usually required for an attack to occur. Our knowledge of these factors/triggers is incomplete but among the most important are a number of medicines, alcohol, stress, fasting or restricting calorie intake, infections and smoking. Attacks are more common in women of child-bearing age due to normal hormonal changes of the menstrual cycle or associated with pregnancy. […] Early recognition of an acute attack allows treatment to be started as soon as possible. The first symptoms are often easily recognised by those who have previously experienced an attack. If you think you have early symptoms of an attack, you should try to continue eating and drinking if you can, and it may be helpful to boost your intake of sugary and starchy foods. You should not drink any alcohol.

• #2 Acute Hepatic Porphyria: Signs and Symptoms

  https://www.webmd.com/brain/acute-hepatic-porphyria-symptoms

  Acute hepatic porphyria (AHP) happens when your body doesn’t make a substance called heme the way it should. Heme, a part of red blood cells, does a lot of vital things, like carry oxygen throughout your body. […] AHP causes a wide range of symptoms that are common to other disorders and may differ among people; doctors may not even test for it as a result. […] Your first AHP attack usually wont show up until after puberty. And its more likely to happen if youre a woman between ages 14 and 45. You may notice that your symptoms are worse during the second half of your menstrual cycle. […] It’s possible to have more than one attack during your life. During one, your symptoms may get worse over the course of a few days or longer. Without treatment, they may last weeks or months. […] AHP can bring a wide range of acute and chronic symptoms that affect the nervous system. They might include:

• #2 Porphyria: Types, Causes, and Treatment

  https://patient.info/allergies-blood-immune/porphyria-leaflet

  Rarely, an acute attack can cause death. If death does occur, it is usually because either the heart stops beating due to a cardiac arrhythmia (as mentioned above) or the breathing muscles are affected, meaning the affected person has to be ventilated. […] In a small minority of people, long-term (chronic) high blood pressure or chronic kidney disease can develop because of repeated acute attacks. Chronic liver damage can also, rarely, occur.

• #2 Porphyria cutanea tarda: Causes, symptoms, and diagnosis

  https://www.medicalnewstoday.com/articles/318543

  Porphyria cutanea tarda primarily affects the skin. People with the condition develop photosensitivity, which means that sunlight makes the condition worse, often causing painful blisters to form on the skin. […] Symptoms usually occur when levels of UROD drop to around 20% of normal levels. […] PCT causes photosensitivity, which is an extreme sensitivity to sunlight. Photosensitivity can cause painful, blistering lesions on skin that has been exposed to the sun, usually on the hands and face. The skin in these areas can be particularly fragile, and may blister or peel if subjected to even minor trauma. The resulting lesions may crust over. […] Over time, scarring may cause the skin to darken or fade. This is called hyperpigmentation or hypopigmentation. […] Some people with PCT may also experience excessive, abnormal hair growth. This usually happens on the face, and the hair can be fine or coarse and differ in color. Some people may see their hair grow, thicken, and darken.

• #2 Porphyria – Wikipedia

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

  Skin disease is encountered where excess porphyrins accumulate in the skin. Porphyrins are photoactive molecules, and exposure to light results in promotion of electrons to higher energy levels. When these return to the resting energy level or ground state, energy is released. This accounts for the property of fluorescence typical of the porphyrins. This causes local skin damage. […] Two distinct patterns of skin disease are seen in porphyria: Immediate photosensitivity. This is typical of XLDPP and EPP. Following a variable period of sun exposure typically about 30 minutes patients complain of severe pain, burning, and discomfort in exposed areas. […] Vesiculo-erosive skin disease. This a reference to the characteristic blistering (vesicles) and open sores (erosions) noted in patients is the pattern seen in CEP, PCT, VP, and HCP. The changes are noted only in sun-exposed areas such as the face and back of the hands. Milder skin disease, such as that seen in VP and HCP, consists of increased skin fragility in exposed areas with a tendency to form blisters and erosions, particularly after minor knocks or scrapes. These heal slowly, often leaving small scars that may be lighter or darker than normal skin. More severe skin disease is sometimes seen in PCT, with prominent lesions, darkening of exposed skin such as the face, and hypertrichosis: abnormal hair growth on the face, particularly the cheeks. The most severe disease is seen in CEP and a rare variant of PCT known as hepatoerythropoietic porphyria (HEP); symptoms include severe shortening of digits, loss of skin appendages such as hair and nails, and severe scarring of the skin with progressive disappearance of ears, lips, and nose. Patients may also show deformed, discolored teeth or gum and eye abnormalities.

• #2 Porphyria | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/porphyria?content_id=CON-20257485

  Possible complications depend on the form of porphyria: Acute porphyrias can be life-threatening if an attack isn’t promptly treated. During an attack, you may experience dehydration from loss of fluids, breathing problems, seizures or high blood pressure. You may need a stay in the hospital for treatment. Long-term complications with repeat acute attacks may include long-term pain, chronic kidney failure, liver damage or liver cancer. […] Cutaneous porphyrias can result in permanent skin damage. And the skin blisters can become infected. When your skin heals after symptoms, it may have a changed appearance and coloring, be fragile and slow to heal, or leave scars. Cutaneous porphyrias also increase the risk of liver damage or liver cancer.

• #2 Variegate porphyria

  https://dermnetnz.org/topics/variegate-porphyria

  In most cases acute attacks usually begin in adulthood and can often be linked to history of a new medication. […] Signs and symptoms of variegate porphyria rarely occur in childhood, however in cases where it does occur it is usually more severe and even debilitating. […] Most people with variegate porphyria have skin that is overly sensitive to sunlight. Areas exposed to the sun often develop blistering, scarring, changes in skin colour and increased hair growth. […] Acute attacks cause severe abdominal pain, uncontrolled vomiting, diarrhoea and constipation. Neurological manifestations include muscle and limb weakness that may progress to areflexic quadriparesis (weak arms and legs), seizures, and mental changes such as anxiety and hallucinations. Other symptoms include changes in heart rate and blood pressure, and respiratory distress. Electrolyte imbalance such as low sodium and magnesium levels may be present.

• #2 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

  Acute intermittent porphyria, which causes abdominal pain and nervous system symptoms, is the most common acute porphyria. […] Symptoms may include vomiting, abdominal or back pain, weakness in arms or legs, and psychiatric symptoms. […] The most common symptom is generalized abdominal pain that lasts for several hours to days. […] Many people never experience symptoms of acute intermittent porphyria. Other people may have only a few attacks over their lifetimes. However, some people have recurrent attacks. Many people have pain or other symptoms between attacks. […] Symptoms occur as attacks that usually last a few days but occasionally longer. Such attacks usually first appear after puberty. In some women, attacks develop during the second half of the menstrual cycle, likely triggered by the elevation of progesterone levels that occurs then.

• #2 The porphyrias – British Porphyria Association

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

  […] […] Variegate porphyria is an INHERITED condition. Attacks are uncommon and often difficult to diagnose. In addition to acute symptoms, in VP the skin may also be affected. 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. Around 3 in 5 of those that do will have skin sensitivity only, while 1 in 5 will have acute attacks only and the remaining 1 in 5 have both acute attacks and skin problems. […] […] […] Hereditary coproporphyria is also an inherited condition. People with HCP are prone to acute attacks, and can have skin problems during an acute attack. […] […] […] Erythropoietic Protoporphyria (EPP) is a less common form of porphyria and classified in the UK as an ultra rare disease. Although EPP patients initially present by reporting intense burning pain and irritation in the skin, EPP is actually a metabolic disorder in the haem pathway. EPP normally manifests in early childhood, however many patients endure being undiagnosed into their 30s and beyond. An affected baby will often get fractious if taken outside, or put near bright lights, or by a window during daylight. Exposure to bright sunlight, for as little as a few minutes in the worst affected patients, causes burning pain in exposed skin. Pain may be so severe and persistent that it prevents sleep for several nights.

• #2 Frequently Asked Questions | Porphyrias Consortium

  https://pc.rarediseasesnetwork.org/frequently-asked-questions

  The liver is affected differently for each type of porphyria. […] For most people, the life expectancy is similar to that of persons without porphyria. In the case of people with acute hepatic porphyrias, especially those with chronically high levels of the porphyrin precursors ALA and PBG, there are increased risks of the development of high blood pressure, chronic kidney disease, and, usually later in life (after age 50) the development of hepatocellular carcinoma (primary liver cell cancer). […] Women with an acute porphyria are more prone to have acute attacks during pregnancy and in the post-partum period, and these may require prompt and careful treatment. […] Treatment for acute attacks requiring hospitalization is hemin (panhematin) which is given intravenously. During hospitalization, people typically get one dose a day for about four days.

• #2 Acute Hepatic Porphyria Types & Symptoms | Pinpoint AHP®

  https://www.porphyria.com/about-ahp

  Chronic symptoms, such as anxiety, nausea, pain, and fatigue can take a serious toll on some people with AHP. […] By the time I was 14, I had more unexplained attacks. My symptoms included tremors, seizures, sunburns and light sensitivity, frequent vomiting, abdominal pain, severe all-body pain, muscle weakness, memory loss, and diarrhea. […] Severe, unexplained abdominal pain is the most common symptom, occurring in more than 90% of people who experience AHP attacks. People with AHP are likely to also experience at least one of many other, seemingly unrelated symptoms. […] While most people with AHP experience severe abdominal pain during attacks, symptoms vary from person to person and change over time. Not every person with AHP will experience all of the symptoms listed here, and some will experience symptoms more frequently or more severely than others. […] The signs and symptoms of AHP can be mistaken for those of other conditions, shown below. These misdiagnoses can lead to unnecessary treatments, surgeries, and hospital stays.

• #2 Porphyria – Diagnosis and treatment – Mayo Clinic

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

  Many symptoms of porphyria are like those of other more common diseases. Because porphyria is rare, it can be difficult to diagnose. […] 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 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. […] If you have symptoms of porphyria, you’re likely to start by seeing your primary care provider. However, because porphyria can be difficult to diagnose, you may be referred to a specialist in blood disorders (hematologist) or skin conditions (dermatologist).

• #2 Porphyria: often misunderstood and rarely diagnosed – O&G Magazine

  https://www.ogmagazine.org.au/24/1-24/porphyria-often-misunderstood-and-rarely-diagnosed/

  Usually, people experiencing AHP for the first time will present between ages 18 and 35. People with AHP typically experience considerable non-localised abdominal pain, nausea, neurological changes, light sensitivity, and reddish-brown urine (that contains no blood). The most typical time to have an onset of AHP is after puberty, trauma, or pregnancy. […] Without the correct diagnostic testing, this can be the end of the journey to diagnosis for patients. Many women can have a delay of up to ten years until the correct diagnosis is confirmed. […] The good news is that testing for porphyria is straightforward and inexpensive. […] If AHP was regularly tested for in people presenting to their GP or gynaecologist with persistent, unexplained abdominal pain, we would see the numbers of patients diagnosed increase.

• #2 Acute intermittent porphyria – Wikipedia

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

  Rapid, accurate diagnosis is important. Delays in diagnosis may result in permanent neurological damage or death. The initial diagnosis of acute porphyria is confirmed by urinalysis, including the common method, the Watson-Schwartz test. Elevated urine porphobilinogen confirms diagnosis of AIP, hereditary coproporphyria (HCP), or variegate porphyria (VP). A positive test should be indicated with an increase of five times normal, not just a slight increase which can occur with dehydration. To distinguish between AIP from HCP and VP, fecal porphyrin levels are normal in AIP but elevated in HCP and VP. […] If drugs have caused the attack, discontinuing the offending substances is essential. A high-carbohydrate (10% glucose) infusion is recommended, which may aid in recovery. Hematin and heme arginate is the treatment of choice during an acute attack. Heme is not a curative treatment, but can shorten attacks and reduce the intensity of an attack. Pain is extremely severe and almost always requires the use of opiates to reduce it to tolerable levels. Pain should be treated as early as medically possible due to its severity.

• #3 AHP Signs & Symptoms | Porphyria Diagnosis™

  https://www.porphyria.com/hcp/signs-and-symptoms

  92% of patients with acute hepatic porphyria report severe, diffuse abdominal pain […] 90% of patients report abdominal pain during AHP attacks (mimics acute abdomen but without specialized localization)1,2,7 AHP=acute hepatic porphyria. […] In addition to severe, diffuse abdominal pain without fever or leukocytosis, other common symptoms of AHP include nausea and vomiting, limb weakness or pain, anxiety, confusion, and skin lesions on sun-exposed areas (HCP and VP primarily). Tachycardia and hyponatremia are often present in acute attacks of AHP.2,3,6 […] In a large natural history study of patients with recurrent attacks, 65% of patients reported chronic symptoms in between attacks (including pain), and 46% reported experiencing symptoms every day. […] Long-term complications of AHP may include chronic hypertension, chronic kidney disease, hepatocellular carcinoma, and psychological problems.

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