Presented at: International Liver Congress; Apr. 11-15, 2018; Paris, France. Disclosure: Sardh reports no relevant financial disclosures. Editor’s note: This item has been updated to reflect the most recent data presented. [healio.com]

These can present with blistering skin lesions or with nonblistering photosensitivity. Hereditary coproporphyria and variegate porphyria also can present with blistering skin lesions similar to those seen in porphyria cutanea tarda. [hematologyandoncology.net]

The long delay in diagnosis that can lead to appropriate management is in part because of the multitude of specialties to which these patients might present, she suggested. [medpagetoday.com]

Cutaneous lesions are present in the majority of patients affected by variagate porphyria and in less than 15% of patients with hereditary coproporphyria. [orpha.net]

Here, we present a challenging case of porphyria in a patient with end-stage renal disease and present the diagnostic challenges associated with the case and the ways forward. 1. [hindawi.com]

• Pain

  However, many patients have recurrent attacks of acute hepatic porphyria and develop chronic symptoms, such as pain, nausea, and fatigue. "For some of these patients the pain is daily and they need active pain management," Balwani noted. [medpagetoday.com]

  Although severe abdominal pain is a hallmark symptom of AHP, a doctor who is unfamiliar with the disease may not fully understand the cause or severity of the pain and assume the patient is being a “drug seeker.” [bwhi.org]

  Her abdominal pain was so bad that she crawled to a field on the side of the road and laid down. AHP is also characterized by back pain, chest pain, and pain in the limbs. Dr. [gastrogirl.com]

  In addition, historically, research has shown that women's pain has been taken less seriously by doctors than men's pain, and symptoms of AHP, like pain, often go unacknowledged, meaning that many women need to fight even harder to be taken seriously [healthywomen.org]

  AHP FEATURES A COMBINATION OF SYMPTOMS 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 [thinkporphyria.eu]

• Acute Intermittent Porphyria

  Acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria occur globally, but some regions have higher prevalence due to founder effects (eg, acute intermittent porphyria in Sweden and variegate porphyria in South Africa). [dermnetnz.org]

  Acute intermittent porphyria-related leukoencephalopathy. [scielo.br]

  The acute hepatic porphyrias include acute intermittent porphyria (the most common form), hereditary coproporphyria, and variegate porphyria, which are autosomal dominant in inheritance. [hematologyandoncology.net]

  Some porphyrias are considered acute due to acute attacks as the presentation, and of these, acute intermittent porphyria is the most common 1. [radiopaedia.org]

  Of the 7 patients with hepatocellular carcinoma, 6 had acute intermittent porphyria and one had variegate porphyria. [nature.com]

• Anemia

  […] recessive) Erythropoietic protoporphyria (autosomal dominant) Secondary porphyria (acquired) Secondary coproporphyria (caused by e.g., intoxication, hepatic diseases, blood disorders, infections, starvation) Secondary protoporphyrinemia (caused by e.g., anemia [amboss.com]

  Treatments for erythropoietic disease include: iron supplements for anemia blood transfusions bone marrow transplant Porphyria is a genetic disease. [healthline.com]

  The patient on routine labs was also found to have an acute on chronic anemia (hemoglobin baseline 10-11 g/dL, Hgb on admission 9.7 g/dL with an MCV of 92.6 and an RDW of 19.9). Further evaluation was consistent with a hemolytic anemia (Table 2). [hindawi.com]

  Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). The other types of porphyrias are considered hepatic porphyrias. [medlineplus.gov]

  About 40% of patients have anemia which is usually mild and microcytic. [www1.rarediseasesnetwork.org]

• Weight Loss

  If weight loss is desired, it is advisable to contact a physician and dietitian. Premenstrual attacks often resolve quickly with the onset of menstruation. [porphyriafoundation.org]

  loss Surgery/anesthesia People cannot always control every aspect of life; however, even if it is a situation that cannot be controlled (such as menstrual cycles), communicating with your doctor and being as prepared as possible before an attack happens [liverfoundation.org]

  This should result in a gradual weight loss and usually will not cause an attack of porphyria. Gastric bypass surgery for obesity has occasionally led to first attacks of acute hepatic porphyria. [www1.rarediseasesnetwork.org]

  The most common identified triggers for acute attacks are medications, weight loss diets, and surgery.[19] Many medications have been associated with AIP including antibiotics, hormonal contraceptives, seizure medications, anesthetics, and HIV treatment [en.wikipedia.org]

  loss and be adopted only during periods of remission. [msdmanuals.com]

• Limb Pain

  tingling, limb pain]) Central nervous system manifestations occurring around the time of abdominal pain (i.e., confusion, anxiety, seizures, hallucinations) Autonomic nervous system manifestations occurring around the time of abdominal pain (i.e., hyponatremia [invitae.com]

  Symptoms associated with hepatic disease include: limb pain neuropathy hypertension tachycardia (fast heart rate) electrolyte imbalance Symptoms associated with erythropoietic disease include: extreme skin sensitivity to light anemia (when the body does [healthline.com]

  It is seen in 85-95% patients and may be accompanied by back, buttock or limb pain. Absence of guarding is characteristic and helps to differentiate from a surgical abdomen. [tropicalgastro.com]

  Her most recent episode led to an ED visit for abdominal pain 3 weeks ago. She had severe abdominal pain (9/10) with nausea and fatigue and noted dark urine prior to the ED visit. She had radiating limb pain (mainly in her legs). [emjreviews.com]

  The most commonly reported debilitating symptoms are diffuse severe pain affecting the abdomen, back, or limbs; other common attack signs and symptoms include nausea and vomiting, constipation, hypertension, motor weakness, insomnia, or anxiety [1–3, [ncbi.nlm.nih.gov]

• Respiratory Insufficiency

  A total of 2/36 patients progressed rapidly to acute respiratory insufficiency, and the correct diagnoses were missed for the other patients who were treated for seizures for more than 3 weeks in local hospitals. [hindawi.com]

• Abdominal Pain

  tingling, limb pain]) Central nervous system manifestations occurring around the time of abdominal pain (i.e., confusion, anxiety, seizures, hallucinations) Autonomic nervous system manifestations occurring around the time of abdominal pain (i.e., hyponatremia [invitae.com]

  AHP can be diagnosed using a PBG urine test, and testing should be considered in all patients presenting with recurrent abdominal pain of unknown origin. [medthority.com]

  Her abdominal pain was so bad that she crawled to a field on the side of the road and laid down. AHP is also characterized by back pain, chest pain, and pain in the limbs. Dr. [gastrogirl.com]

  Signs and Symptoms of AHP While most people with AHP experience severe abdominal pain during attacks, symptoms vary from person to person and change over time. [porphyria.com]

  Clinical description All acute hepatic porphyrias can be accompanied by neuro-visceral attacks that appear as intense abdominal pain (in 85-95% of cases) over one to two weeks, neurological symptoms (muscular weakness, sensory loss or convulsions) and [orpha.net]

• Vomiting

  Additional treatments include painkillers and antiemetics (to treat nausea and vomiting), chemically-induced menopause with hormonal suppression therapy, and liver transplantation. [ema.europa.eu]

  These are symptoms that last a long time and may include: anxiety depression fatique- feeling overly tired or having low energy nausea- feeling of sickness in the abdomen, stomach, chest, or head with feeling an urge to vomit pain- physical discomfort [iffgd.org]

  Gastrointestinal disorders Irritable bowel syndrome (IBS) Acute gastroenteritis with vomiting Hepatitis Crohn's disease Neurological/neuropsychiatric disorders Fibromyalgia Guillain-Barré syndrome Psychosis Gynecological disorders Endometriosis Abdominal [mygi.health]

  The most typical symptoms of an acute hepatic porphyria attack are fairly nonspecific: abdominal pain, chest and back pain, nausea, vomiting, constipation, and tachycardia. [medpagetoday.com]

  AHP FEATURES A COMBINATION OF SYMPTOMS 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 [thinkporphyria.eu]

• Nausea

  The most typical symptoms of an acute hepatic porphyria attack are fairly nonspecific: abdominal pain, chest and back pain, nausea, vomiting, constipation, and tachycardia. [medpagetoday.com]

  These are symptoms that last a long time and may include: anxiety depression fatique- feeling overly tired or having low energy nausea- feeling of sickness in the abdomen, stomach, chest, or head with feeling an urge to vomit pain- physical discomfort [iffgd.org]

  CHRONIC AHP SYMPTOMS Chronic symptoms, such as anxiety, nausea, pain, and fatigue can take a serious toll on some people with AHP. Signs and Symptoms of AHP The symptoms of AHP can vary from person to person and change over time. [mygi.health]

  The most common symptoms associated with such attacks were pain, nausea, and vomiting. Chronic symptoms described included pain, nausea, fatigue, and aspects of neuropathy like tingling and numbness. [porphyrianews.com]

  AHPs are associated with potentially life-threatening acute attacks characterised by a range of debilitating symptoms including severe, diffuse abdominal pain, nausea, weakness and constipation. [medthority.com]

• Constipation

  AHPs are associated with potentially life-threatening acute attacks characterised by a range of debilitating symptoms including severe, diffuse abdominal pain, nausea, weakness and constipation. [medthority.com]

  […] marrow, respectively.2 Acute Hepatic Porphyria typically causes episodes of severe unexplained abdominal pain together with one or more of the following symptoms: limb, back, or chest pain, nausea, vomiting, confusion, anxiety, seizures, weak limbs, constipation [livingwithporphyria.eu]

  The most common presenting features include pain in the abdomen, extremities, back, and chest, tachycardia, hypertension, nausea, vomiting, constipation, and peripheral motor neuropathy. The pain is neuropathic and not accompanied by inflammation. [bestpractice.bmj.com]

  […] head with feeling an urge to vomit pain- physical discomfort and/or suffering in the body Gastrointestinal Symptoms of AHP AHP often affects the GI tract and can cause: Pain and/or discomfort in the belly area (stomach and intestines) Nausea Vomiting Constipation [iffgd.org]

• Severe Abdominal Pain

  As a result, substances for making haem accumulate in the body (particularly in the liver) and become toxic, causing attacks of severe abdominal pain, vomiting and nervous system disorders, such as seizures (fits), depression and anxiety. [io.nihr.ac.uk]

  Severe abdominal pain: the most common AIP symptom The most common symptom of AIP is severe abdominal pain that usually cannot be relieved with pain medicine such as Advil® (ibuprofen) or Tylenol® (acetaminophen). [panhematin.com]

  Erwin, an AHP attack typically causes “episodes of severe abdominal pain” that “ofen is a burning and very severely painful sensation all over the abdomen.” Additionally, nausea and vomiting is common. [gastrogirl.com]

  Consider AIP if typical clinical features are seen in the absence of other causes (e.g., unexplained severe abdominal pain accompanied by muscle weakness and dark urine). [amboss.com]

  This can cause attacks of severe abdominal pain, vomiting and nervous system disorders, such as seizures, depression and anxiety. AHP is life-threatening due to the possibility of paralysis and respiratory arrest during attacks. [ema.europa.eu]

• Jaundice

  Givosiran has generally been well-tolerated, with only a few patients experiencing elevations in serum alanine aminotransferase and aspartate aminotransferase (without jaundice) severe enough to require temporary or permanent cessation of the drug. [msdmanuals.com]

  Its clinical presentation is distinct from that of classic HCP and includes neonatal hemolytic anemia, neonatal jaundice, and mild chronic anemia during childhood and adulthood. Hepatosplenomegaly and dark-reddish urine may also be observed. [scielo.br]

• Neonatal Jaundice

  Its clinical presentation is distinct from that of classic HCP and includes neonatal hemolytic anemia, neonatal jaundice, and mild chronic anemia during childhood and adulthood. Hepatosplenomegaly and dark-reddish urine may also be observed. [scielo.br]

• Hypertension

  […] lead to a diagnosis1,2: CENTRAL2,4 anxiety, depression, confusion, seizures, hallucinations, insomnia PERIPHERAL2,4 muscle weakness, neuropathic pain in limbs, sensory loss, paralysis, fatigue, respiratory paralysis AUTONOMIC2,4,10 nausea and vomiting, hypertension [thinkporphyria.eu]

  Thereafter, the other anti-hypertensive agents were gradually reduced and stopped based on the blood pressure recordings. The echocardiogram was normal. [tropicalgastro.com]

  Nausea, vomiting, tachycardia, hypertension, constipation and hyponatremia are additional symptoms due to neurovisceral damage by toxic metabolites. [econtent.hogrefe.com]

  The most common presenting features include pain in the abdomen, extremities, back, and chest, tachycardia, hypertension, nausea, vomiting, constipation, and peripheral motor neuropathy. The pain is neuropathic and not accompanied by inflammation. [bestpractice.bmj.com]

  They also can have significant autonomic dysfunction, including tachycardia and hypertension. [hematologyandoncology.net]

• Tachycardia

  Tachycardia and hyponatremia are often present in acute attacks of AHP.1,2,7 These symptoms reflect toxic effects across the autonomic, peripheral, and central nervous systems. [thinkporphyria.eu]

  The most common presenting features include pain in the abdomen, extremities, back, and chest, tachycardia, hypertension, nausea, vomiting, constipation, and peripheral motor neuropathy. The pain is neuropathic and not accompanied by inflammation. [bestpractice.bmj.com]

  and no fever Skin is never affected HCP Autosomal dominant inheritance Symptoms include acute-onset abdominal pain with nausea, vomiting, constipation, and tachycardia (identical to those of AIP) Skin symptoms are rare but can present with or without [arupconsult.com]

  […] symptoms (5 P’s) severe abdominal pain without tenderness on palpation neurological symptoms polyneuropathy seizures, weakness, and paralysis psychiatric symptoms anxiety and insomnia port wine-colored urine precipitated by an exposure Physical exam vitals tachycardia [step1.medbullets.com]

  The second most common form, acute intermittent porphyria (AIP), is characterized by life-threatening attacks of severe abdominal pain, nausea and vomiting, tachycardia, and neuropsychiatric abnormalities. [amboss.com]

• Palpitations

  […] vomiting Muscle pain, tingling, numbness, weakness or paralysis Red or brown urine Mental changes, such as anxiety, confusion, hallucinations, disorientation or paranoia Breathing problems Urination problems Rapid or irregular heartbeats you can feel (palpitations [mayoclinic.org]

  These may include: vomiting insomnia constipation pain in the arms and legs muscle weakness confusion, hallucinations, and seizures heart palpitations Hereditary coproporphyria Hereditary coproporphyria (HCP) is characterized by a deficiency of the enzyme [healthline.com]

  Other symptoms may include: vomiting constipation pain in the back, arms and legs muscle weakness (due to effects on nerves supplying the muscles) urinary retention palpitations (due to a rapid heart rate and often accompanied by increased blood pressure [porphyriafoundation.org]

  Patients were eligible if they: (1) had three or more porphyria attacks (defined as an acute episode of severe abdominal, back, and/or limb pain that may also have had associated symptoms such as nausea, vomiting, poor appetite, palpitations, and problems [ncbi.nlm.nih.gov]

• Muscle Weakness

  Symptoms that impact the nervous system include: Pain in arms, legs, chest, back, neck, or head Muscle weakness Mental symptoms like agitation, confusion, depression, and/or hallucinations Seizures Patients can also experience fast heart rate, high blood [iffgd.org]

  It’s also important to address the other symptoms of AIP, like a racing heart (tachycardia) and muscle weakness, because they can lead to complications. [verywellhealth.com]

  These tend to cause attacks in adults and the main symptoms can include gastrointestinal symptoms such as abdominal pain, nausea and vomiting; cardiac symptoms such as changes in blood pressure or increased heart rate; motor symptoms such as muscle weakness [nhstayside.scot.nhs.uk]

  Skin symptoms in variegate porphyria and hereditary coproporphyria Late manifestations of acute porphyrias Motor involvement during acute attacks may lead to persistent muscle weakness and muscle atrophy between attacks. [msdmanuals.com]

• Blister

  Urine Porphyrin Fractionation and Quantitation Urine porphyrin fractionation and quantitation is the initial test used to evaluate patients for porphyrias that manifest with blistering cutaneous photosensitivity. [arupconsult.com]

  Characteristic cutaneous findings Blistering skin lesions (vesicles, bullae) secondary to the increased fragility of sun-exposed skin (blistering photosensitivity) Scarring and milia secondary to an impaired healing process Hypertrichosis Hyperpigmentation [amboss.com]

  AHP is life-threatening due to the possibility of paralysis and respiratory arrest during attacks and debilitating in the long term because of symptoms such as pain, nausea, seizures and skin blistering. [io.nihr.ac.uk]

  Being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. The scarring may be disfiguring. Urine may turn red or brown after an attack. [mountsinai.org]

  Defects in porphyrin metabolism result in buildup of one of the porphyrins, which affects nerve endings and reacts to sunlight to cause blisters in sun-exposed areas. [utswmed.org]

• Skin Rash

  Cutaneous porphyrias This type of porphyria mainly affects the skin, causing skin rashes and other problems. The excess porphyrins that build up can interact with light, making the skin light-sensitive. [patient.info]

  Reactions such as dizziness, feeling faint, allergies or short-lived skin rashes, which may occur immediately or very soon after taking the drug are common and rarely have anything to do with porphyria. [porphyria.eu]

• Blisters on Sun-Exposed Areas

  Defects in porphyrin metabolism result in buildup of one of the porphyrins, which affects nerve endings and reacts to sunlight to cause blisters in sun-exposed areas. [utswmed.org]

• Psychiatric Manifestation

  "Psychiatric Manifestations in three cases of Acute Intermittent Porphyria". Medical Journal, Armed Forces India. 59 (2): 171–173. doi:10.1016/S0377-1237(03)80075-8. ISSN 0377-1237. PMC 4923792. [en.wikipedia.org]

  Although diagnosing AIP in children poses great challenges, this disease should be suspected in patients with nonspecific gastrointestinal, neurological and/or psychiatric manifestations, and should be included in the differential diagnosis of abdominal [analesdepediatria.org]

  Motor     Motor paresis   Central nervous system    Impairment of bulbar or respiratory function (respiratory paralysis)    Convulsions/seizures   Psychiatric    Psychiatric manifestations (behavior change, agitation, anxiety, and depression) Has ongoing [hindawi.com]

  The predominant problem appears to be neurologic damage that leads to peripheral and autonomic neuropathies and psychiatric manifestations. [2] Although levels of porphobilinogen and ALA are always elevated during acute attacks, how this leads to the [emedicine.medscape.com]

  Santosh PJ, Malhotra S: Varied psychiatric manifestations of acute intermittent porphyria. Biol Psychiatry 1994; 36:744-747Crossref, Medline, Google Scholar 36. [ajp.psychiatryonline.org]

• Delusion

  Sleep disturbance, anxiety, delirium, hallucinations, depressed mood, and paranoid delusions may be present.81,82 Lethargy and coma occur rarely. Peripheral motor neuropathies may lead to foot or wrist drops. [epilepsy.com]

  A had paranoid delusions and auditory hallucinations. He heard animals in his room and thought the police wanted to harm him. [ajp.psychiatryonline.org]

  Other psychiatric contexts may also be found, including catatonia, delusions, mood and behavioral changes, visual and auditory hallucinations, paranoid psychosis, or late-onset personality disorders11. Stötzel U, Doss MO, Schuppan D. [scielo.br]

• Hysteria

  Clinical Manifestations Reported clinical manifestations of acute porphyria include neuropsychiatric symptoms and clinical signs (hysteria, anxiety, depression, phobias, psychosis, agitation, delirium, restlessness, seizures, neuropathy, sensory involvement [ajp.psychiatryonline.org]

  Porphyrias can also lead to other mental health conditions, such as: anxiety depression hysteria phobias Keep your healthcare providers updated on any mental health symptoms you might be experiencing, such as: fear insomnia irritability loss of interest [healthline.com]

• Seizure

  AHP is life-threatening due to the possibility of paralysis and respiratory arrest during attacks and debilitating in the long term because of symptoms such as pain, nausea, seizures and skin blistering. [io.nihr.ac.uk]

  Seizure: Seizures occur in 10% to 20% of cases and can be controlled with a short-acting benzodiazepine, gabapentin, or magnesium. [ncbi.nlm.nih.gov]

• Confusion

  AHP FEATURES A COMBINATION OF SYMPTOMS 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 [thinkporphyria.eu]

  […] of the genetic defect: the liver or bone marrow, respectively.2 Acute Hepatic Porphyria typically causes episodes of severe unexplained abdominal pain together with one or more of the following symptoms: limb, back, or chest pain, nausea, vomiting, confusion [livingwithporphyria.eu]

  People with AHP should also learn the signs of an imminent attack — some people, for example, may feel anxious or confused, while others may experience limb weakness, fatigue, rapid heart rate or difficulty breathing. [healthywomen.org]

  […] attacks that appear as intense abdominal pain (in 85-95% of cases) over one to two weeks, neurological symptoms (muscular weakness, sensory loss or convulsions) and psychological symptoms (irritability, anxiety, auditory or visual hallucinations, mental confusion [orpha.net]

  Symptoms that impact the nervous system include: Pain in arms, legs, chest, back, neck, or head Muscle weakness Mental symptoms like agitation, confusion, depression, and/or hallucinations Seizures Patients can also experience fast heart rate, high blood [iffgd.org]

• Agitation

  Symptoms that impact the nervous system include: Pain in arms, legs, chest, back, neck, or head Muscle weakness Mental symptoms like agitation, confusion, depression, and/or hallucinations Seizures Patients can also experience fast heart rate, high blood [iffgd.org]

  You may get irritated, agitated, or feel like you need to move around. It’s also common to worry a lot or feel depressed and lose interest in activities or get confused. You could also see things that aren’t there or get really paranoid. [webmd.com]

  Acute porphyria can also cause mental health (psychiatric) problems including agitation, mania, depression and hallucinations. Symptoms are described more fully later. [patient.info]

  Mental symptoms, such as irritability, restlessness, insomnia, agitation, tiredness, and depression, are common. Nervous system symptoms are numerous. [msdmanuals.com]

• Neurologic Manifestation

  Seizures associated with AIP occur either as a direct neurologic manifestation of the condition or from hyponatremia, which may result from SIADH, vomiting, diarrhea, or poor oral intake. [epilepsy.com]

  […] indicating that postnatal porphyrin precursor toxicity is responsible for the neurologic manifestations in HD-AIP. [jamanetwork.com]

  Variegate porphyria (VP) and hereditary coproporphyria (HCP) present with cutaneous manifestations alongside the acute neurologic manifestations [7]. [ojrd.biomedcentral.com]

  "Neurological manifestations of acute intermittent porphyria". Cellular and Molecular Biology (Noisy-Le-Grand, France). 55 (1): 72–83. ISSN 1165-158X. [en.wikipedia.org]

  The acute hepatic porphyrias are manifest as neurological attacks (seizures, psychosis, severe abdominal and back pain, and acute polyneuropathy) and, to a lesser extent, with cutaneous manifestations such as photosensitive blistering rash or hypertrichosis [ncbi.nlm.nih.gov]

• Convulsions

  Clinical description All acute hepatic porphyrias can be accompanied by neuro-visceral attacks that appear as intense abdominal pain (in 85-95% of cases) over one to two weeks, neurological symptoms (muscular weakness, sensory loss or convulsions) and [orpha.net]

  Medication can also be started to reduce any raised heart rate and raised blood pressure or to treat any convulsions that develop. [patient.info]

  BRAIN OR NERVOUS SYSTEM SYMPTOMS (NEUROLOGICAL SYMPTOMS) Pain in your arms, hands, legs, feet, back, chest, neck, or head Weak muscles Trouble breathing Psychological symptoms (such as minor behavioral changes, anxiety, confusion or depression) Convulsions [panhematin.com]

  Barclay et al[4] in 1974 reported AIP in an 11-year old child who had presented with abdominal pain and generalized convulsions, and had hypertension and hyponatremia similar to our child. [tropicalgastro.com]

• Urinary Retention

  retention) Muscle weakness, pain, tingling, or paralysis Seizures Mental changes, such as paranoia or hallucinations Seizures Irregular or rapid heartbeat Symptoms of cutaneous porphyria occur when the skin is exposed to sunlight. [utswmed.org]

  Symptoms of acute porphyrias include: Pain in the abdomen, chest, arms, legs, or back Nausea or vomiting Constipation (difficulty passing stool) Urinary retention (inability to empty bladder completely) Mental status changes, including confusion and hallucinations [my.clevelandclinic.org]

  retention Urinary incontinence Changes in the color of your urine The difference between AIP and other acute porphyrias is how often the symptoms appear and how long they last. [verywellhealth.com]

  retention—the inability to empty the bladder completely confusion hallucinations seizures and muscle weakness Symptoms of acute porphyrias can develop over hours or days and last for days or weeks. [medicinenet.com]

  Other symptoms may include: vomiting constipation pain in the back, arms and legs muscle weakness (due to effects on nerves supplying the muscles) urinary retention palpitations (due to a rapid heart rate and often accompanied by increased blood pressure [porphyriafoundation.org]

• Dark Urine

  You could also have: Dark urine Sensitive skin Belly pain Nausea Seizures An attack usually starts with severe stomach pain and can last for days. You'll usually need to go to the hospital for treatment. [webmd.com]

  Consider AIP if typical clinical features are seen in the absence of other causes (e.g., unexplained severe abdominal pain accompanied by muscle weakness and dark urine). [amboss.com]

  However, recurrent abdominal pain that warrants an ED visit and occurs with neurological symptoms, paraesthesia, muscle weakness, and dark (reddish) urine should raise suspicion for AHP. [emjreviews.com]

• Urinary Incontinence

  […] retention Urinary incontinence Changes in the color of your urine The difference between AIP and other acute porphyrias is how often the symptoms appear and how long they last. [verywellhealth.com]

"And because this is a disorder which is not at the top of a differential when you think of abdominal pain, nausea and vomiting, these patients usually have an extensive workup for GI [gastrointestinal] issues," she added. [medpagetoday.com]

This abdominal pain had an extensive prior workup. [hindawi.com]

The diagnosis of AIP can be confirmed by finding an elevated level of porphobilinogen (>6 mg/L) on a spot urine test during an acute attack (see Workup). High doses of glucose can inhibit heme synthesis and are useful for treatment of mild attacks. [emedicine.medscape.com]

Workup and Diagnosis Most routine investigations may offer information but are not helpful in making a diagnosis, including a diagnosis of porphyria (1). [ajp.psychiatryonline.org]

Details are available from the APF or investigators of the national Porphyria Consortium https://www.rarediseasesnetwork.org/cms/porphyrias Clinical Testing and Workup: Screening tests to measure the levels of the porphyrin precursor porphobilinogen [porphyriafoundation.org]

• Hyponatremia

  Tachycardia and hyponatremia are often present in acute attacks of AHP.1,2,7 These symptoms reflect toxic effects across the autonomic, peripheral, and central nervous systems. [thinkporphyria.eu]

  Initial laboratory investigations revealed hyponatremia (serum sodium 113 meq/L). Ultrasonography and X–ray abdomen were normal. [tropicalgastro.com]

  It is very important to monitor patients with hyponatremia because they can develop seizures. [hematologyandoncology.net]

  The patient had hyponatremia consistent with a syndrome of inappropriate antidiuretic hormone secretion (SIADH), and her aminotransferase (ALT) level was mildly elevated (Box 2). [cmaj.ca]

  Our patient presented repeatedly with hyponatremia. Marked hyponatremia frequently complicates acute porphyrias (4, 5, 7, 31, 34, 45). [ajp.psychiatryonline.org]

• Hepatocellular Carcinoma

  Among the 124 of the 163 living patients, who were traced 1984-1985, no hepatocellular carcinoma was found. [nature.com]

  However, a burden of chronic disease in AIP patients is common – particularly chronic liver and kidney disease, and an increased risk of hepatocellular carcinoma in older patients. [clinlabint.com]

  Several long-term complications are also associated with AHP, e.g. renal function decline and hepatocellular carcinoma [14]. [tandfonline.com]

  carcinoma, and psychological problems. [thinkporphyria.eu]

There are no approved treatments that directly ameliorate or prevent chronic symptoms experienced by many AHP patients and no approved treatments to reduce the risk of attacks. [ema.europa.eu]

Although effective treatment options were limited so far, especially outside of treatment during acute attacks, some treatments (givosiran) have shown positive results in phase 3 trials which could change the treatment algorithm in AHP. [tandfonline.com]

To find out more about AHP visit our dedicated Learning Zone, which includes further information on symptoms, diagnosis and treatment of this condition. [medthority.com]

Other treatments, including RNA interference, are under development. [researchexperts.utmb.edu]

Prognosis In certain patients attacks recur, resulting in the need for repeated and more frequent injections of human hemin. Crippling attacks can possibly indicate a hepatic transplant. [orpha.net]

[…] common drugs cytochrome P-450 inducers anticonvulsants oral contraceptive pills smoking infection starvation fluctuating hormones (menstrual cycle in women) Genetics inheritance pattern autosomal dominant mutations HMBS (also known as PBGD), encoding PBD Prognosis [step1.medbullets.com]

Treatment and Prognosis The prognosis is usually good if the disease is recognized and if treatment is prompt, before severe nerve dysfunction or death develops. [www1.rarediseasesnetwork.org]

Outlook / Prognosis What is the prognosis (outlook) for people with porphyria? Most people with porphyria recover from their symptoms. Because genetic mutations cause this condition, you may experience symptoms throughout your life. [my.clevelandclinic.org]

Prognosis Due to the rarity and low penetrance of acute hepatic porphyrias, data is limited regarding the prognosis of individuals with the condition. [ncbi.nlm.nih.gov]

Etiology Each acute hepatic porphyria is a result of a deficiency of one of the enzymes in the heme biosynthesis pathway. [orpha.net]

[…] infections, starvation) Secondary protoporphyrinemia (caused by e.g., anemia, alcohol, or chronic heavy metal poisoning; see metal toxicity) Porphyria cutanea tarda (PCT) Epidemiology Most common porphyria [1] Peak incidence: 30–50 years of age [2] Etiology [amboss.com]

Subsequent workup for an etiology of the hemolysis was negative including hemoglobin electrophoresis, Coombs test, and G6PD testing. [hindawi.com]

Liver transplantation (LT) is reserved for patients with life-threatening acute attacks or progression of symptoms despite hemin therapy.[2] Etiology Porphyrias are generally considered to be genetic diseases. [ncbi.nlm.nih.gov]

Epidemiology Due to the number of AHP subtypes, the rarity of the disease, and the challenging diagnosis, there is a wide range of epidemiology estimates for AHP in the literature. [tandfonline.com]

Published: 01 January 1988 Clinical Oncology/Epidemiology British Journal of Cancer volume 57, pages 117–120 (1988)Cite this article 417 Accesses 99 Citations Metrics details Abstract In this study we examined the case histories of 163 living and 82 deceased [nature.com]

Summary Epidemiology In the majority of European countries, the prevalence of acute hepatic porphyrias is around 1/75,000. In 80% of cases the patients are female, with the majority aged between 20 to 45 years. [orpha.net]

Introduction Clinical definition acute intermittent porphyria (AIP) is an inherited metabolic disease resulting from deficiency in the heme synthesis pathway enzyme porphobilinogen deaminase (PBD) Epidemiology incidence AIP is the most common type of [step1.medbullets.com]

[…] coproporphyria (caused by e.g., intoxication, hepatic diseases, blood disorders, infections, starvation) Secondary protoporphyrinemia (caused by e.g., anemia, alcohol, or chronic heavy metal poisoning; see metal toxicity) Porphyria cutanea tarda (PCT) Epidemiology [amboss.com]

Toxic heme intermediates play a major role in the pathophysiology of the disease. [tandfonline.com]

[…] resulting from deficiency in the heme synthesis pathway enzyme porphobilinogen deaminase (PBD) Epidemiology incidence AIP is the most common type of acute porphyria still relatively rare demographics women > men 20-40 years of age risk factors female gender Pathophysiology [step1.medbullets.com]

The pathophysiology of acute attacks is complex and varies depending on subtype. [radiopaedia.org]

[…] starvation) Secondary protoporphyrinemia (caused by e.g., anemia, alcohol, or chronic heavy metal poisoning; see metal toxicity) Porphyria cutanea tarda (PCT) Epidemiology Most common porphyria [1] Peak incidence: 30–50 years of age [2] Etiology and pathophysiology [amboss.com]

Porphyrias and photosensitivity: pathophysiology for the clinician. [scielo.br]

However, it is not approved as a chronic treatment to prevent attacks. [ema.europa.eu]

Cyclic attacks, if frequent, can be prevented by a GnRH analogue. Frequent noncyclic attacks are sometime preventable by scheduled (e.g. weekly) hemin infusions. Long term complications may include chronic pain, renal impairment and liver cancer. [researchexperts.utmb.edu]

It also is used off-label for prevention of acute attacks. PAGE BREAK Experts with whom HemOnc Today spoke said more therapeutics are needed to prevent the chronic symptoms and severe attacks that can sometimes be fatal. [healio.com]

Preventive medication includes gonadotropin-releasing hormone agonists, intravenous hemin, and subcutaneous givosiran, a gene-silencing small interfering RNA (siRNA) directed towards ALAS, which was approved for use by the U.S. [clinlabint.com]

Panhematin for Prevention of Acute Attacks of Porphyria The purpose of this study is to determine if Panhematin is safe and effective for prevention of acute attacks of porphyria. [centerwatch.com]