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]

AHP, a subset of porphyria, often presents as an acute attack that may require hospitalization. [porphyria.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 report two cases of AIP who presented in pre pubertal age.Case 1A 9-year old boy presented to the outpatient services with a 2-year history of recurrent abdominal pain. [tropicalgastro.com]

Presented at: ACG 2021 Annual Meeting; October 22-27, 2021; Las Vegas, NV and virtual. Abstract P1806. [gastroenterologyadvisor.com]

• Acute Intermittent Porphyria

  New gene therapy for Acute Intermittent Porphyria Angeles suffers from a severe and rare genetic disease called Acute Intermittent Porphyria (AIP). [news-medical.net]

  Of the 94 patients, 89 had acute intermittent porphyria. [nejm.org]

  “In these patients, acute intermittent porphyria appears to have acute exacerbations as well as chronic day-to-day manifestations, and is not just intermittent as its name implies,” the researchers concluded. [porphyrianews.com]

  Acute intermittent porphyria Other names Swedish porphyria, pyrroloporphyria, intermittent acute porphyria Porphobilinogen Specialty Medical genetics Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting [en.wikipedia.org]

  Sahu MT, et al: Medical termination of pregnancy in acute intermittent porphyria. Gynecol Obstet Invest 2006;2:38–40. [karger.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]

  Other abnormalities observed included transaminase elevation (21/36) and anemia (11/36). The serum sodium concentration was significantly negatively correlated with convulsions (, value < 0.05). [hindawi.com]

  Heme biosynthesis and its disorders: porphyrias and sideroblastic anemias. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 38. Hift RJ. The porphyrias. [mountsinai.org]

  C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet 2008; 83: 408-414 8 Schmitt C, Lenglet H, Yu A. et al. [thieme-connect.com]

• 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]

  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]

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

• 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]

• Dutch

  VP is more common in South Africa in people of Dutch ancestry with up to 3 in 1,000 people in the white population affected. Reports suggest that women are more likely to carry the gene mutation. [healthline.com]

  The HMBS mutations in the Dutch (R167W/R173Q),7 English (R167W/R167Q),8 and Spanish (R167W/R167W) patients occurred in exon 10 at CpG dinucleotides, known as mutational hotspots, and altered highly conserved arginines in the enzyme’s active site, which [jamanetwork.com]

• 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

  —A 31-year-old woman had sudden abdominal pain closely resembling that of an acute abdominal condition. At the time of exploratory laparotomy, only dilated intestinal loops and urinary bladder were found. There was no alteration of consciousness. [jamanetwork.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]

  […] attacks, abdominal pain, constipation 9 118 280 732 Arg173Trp 6 F28 Cyclical attacks, abdominal pain, confusion, convulsion 7 112 281 476 Arg173Trp 7 F22 Cyclical attacks, abdominal pain, constipation, respiratory paralysis 11 130     Trp283Term 8 F23 [hindawi.com]

  The child was suspected to have functional abdominal pain possibly abdominal migraine as the episodes were intense, paroxysmal and intermittent with pain-free periods between the episodes. [tropicalgastro.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

  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]

  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]

  Symptoms may include vomiting, abdominal or back pain, weakness in arms or legs, and mental symptoms. The most common symptom is generalized abdominal pain that lasts for several hours to days. [msdmanuals.com]

  The most commonly reported symptoms associated with attacks include severe pain affecting the abdomen, back, or limbs; nausea and vomiting; high blood pressure; motor weakness; insomnia; or anxiety. [porphyrianews.com]

  The pain is sometimes accompanied by nausea, vomiting, ileus, and constipation. Sympathetically mediated signs include tachycardia, hypertension, sweating, and tremors. [epilepsy.com]

• Nausea

  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]

  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]

  After confirmation of a 4-week intrauterine pregnancy, she was discharged from the emergency department with a diagnosis of nausea and vomiting in pregnancy (morning sickness). [cmaj.ca]

  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]

  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]

• Constipation

  […] attacks, abdominal pain, constipation 9 118 280 732 Arg173Trp 6 F28 Cyclical attacks, abdominal pain, confusion, convulsion 7 112 281 476 Arg173Trp 7 F22 Cyclical attacks, abdominal pain, constipation, respiratory paralysis 11 130     Trp283Term 8 F23 [hindawi.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]

  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]

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

• 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]

  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]

  Snapshot An 28-year-old woman presents with colicky abdominal pain. She fidgets around and sporadically has weeping spells, reports tingling in her fingers and toes, and has no significant past medical history with no official psychiatric history. [step1.medbullets.com]

  Over the previous 10 years, she had presented at the ED once or twice yearly with episodes of severe abdominal pain. At her last ED visit, her abdominal pain was debilitating and overwhelming (9–10/10 in severity). [emjreviews.com]

• 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]

• Hypertension

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

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

  […] 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]

  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]

  Hypertensive crises. Increased heart rate. Do you have any of these symptoms? You may have an acute porphyria How is acute porphyria diagnosed? For the diagnosis of porphyrias it is necessary to perform some tests in the urine and blood. [cun.es]

• Tachycardia

  5,6 but if there is damage to the parasympathetic cardiac fibers the pulse rate is not modified.7 In two cases of porphyria, we observed the effect of intravenous (IV) atropine on the tachycardia. [jamanetwork.com]

  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]

  Patient   Clinical features Total length of hospital stay (days) Serum Na (mEq/L) Plasma osmotic pressure Urine osmotic pressure Mutation in PBGD gene 1 F21 Cyclical attacks, abdominal pain, constipation, confusion, convulsion, tachycardia 13 107 245 [hindawi.com]

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

• Palpitations

  Some common symptoms of the disease include abdominal pain, constipation or diarrhoea, muscle pain or paralysis, respiratory problem, reddish urine, palpitation and seizures. [clinicaltrialsarena.com]

  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

  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]

  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]

  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]

  weakness, paresthesia Hallucinations, disorientation, anxiety, insomnia Tachycardia, hypertension Red-purple (port-wine-colored) urine Symptoms of anemia Headache, fatigue, muscle weakness, paresthesias Polyneuropathy, encephalopathy, seizures (children [amboss.com]

• Blister

  The cutaneous porphyrias are rare inherited metabolic disorders that present with blistering of the skin, pain, and/or redness and swelling in sun-exposed areas. [alnylam.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]

  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]

  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]

  It’s associated with extreme sensitivity to sunlight and painful, blistering lesions on the skin. [healthline.com]

• 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]

• 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]

  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]

  Massey EW (1980) Neuropsychiatric manifestations of porphyria. J Clin Psychiatry 41: 208-213. Scott L, Bean DW (1987) Psychiatric manifestations of porphyria. S D J Med 40: 5-8. [heraldopenaccess.us]

• 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]

• 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]

• 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]

  […] autosomal dominant, are associated with seizures:78 acute intermittent porphyria (AIP) hereditary coproporphyria (HCP) variegate porphyria (VP) HCP and VP are much less common than AIP. [epilepsy.com]

  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

  Patient   Clinical features Total length of hospital stay (days) Serum Na (mEq/L) Plasma osmotic pressure Urine osmotic pressure Mutation in PBGD gene 1 F21 Cyclical attacks, abdominal pain, constipation, confusion, convulsion, tachycardia 13 107 245 [hindawi.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]

  […] 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]

  […] 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 or paralysis; psychiatric symptoms such as anxiety, confusion [nhstayside.scot.nhs.uk]

• Agitation

  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]

  Treatment of Acute Attack Intravenous hemin: For patients with an acute attack severe enough to require hospitalization, opioid analgesia, or other intravenous medication, or that is accompanied by nausea and vomiting, motor neuropathy, paresis, seizures, agitation [ncbi.nlm.nih.gov]

• 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]

  Neurological manifestations were also common (confusion, convulsions, paresis, numbness of the extremities, and respiratory paralysis), and most of the patients were misdiagnosed with epilepsy, but the convulsions may have been related to hyponatremia [hindawi.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]

• Convulsions

  The serum sodium concentration was significantly negatively correlated with convulsions (, value < 0.05). [hindawi.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]

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

  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 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]

  Difficulty passing urine (urinary retention) can also occur. Neurological symptoms may also develop including damage to the nerves outside the central nervous system (peripheral neuropathy). [rarediseases.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]

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]

Clinical Testing and Workup Screening tests to measure the levels of the porphyrin precursor porphobilinogen (PBG) in urine are essential to confirm a diagnosis of acute porphyria. [rarediseases.org]

• Hyponatremia

  Hyponatremia is the most common biochemical manifestation; 14 of 36 patients had severe hyponatremia (<125 mEq/L). [hindawi.com]

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

  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 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

  Importantly, the risk of long-term disease consequences, such as porphyria-related kidney disease or hepatocellular carcinoma, remains after menopause. [porphyria.com]

  Ann Intern Med 2005; 142: 439–450 Innala E, Anderson C: Screening for hepatocellular carcinoma in acute intermittent porphyria: a 15-year follow-up in northern Sweden. J Intern Med 2011; 269: 538–545. [econtent.hogrefe.com]

  carcinoma, and psychological problems. [thinkporphyria.eu]

  Treatment and prognosis Patients should be counselled on avoidance of triggers and monitored for long term complications including hepatocellular carcinoma 8,9. Approximately 20% of patients with recurrent attacks develop chronic pain 8. [radiopaedia.org]

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]

The nature and treatment of acute attacks, experiences of long-term heme arginate treatment and access to other appropriate treatment, and the extent of and treatment for chronic symptoms were also investigated within this study. [ojrd.biomedcentral.com]

Management and treatment When an acute attack is confirmed, urgent treatment with an injection of human hemin and/or perfusion of carbohydrates is required. [orpha.net]

The treatment is the administration of intravenous hemin to prevent the progression of the symptoms. [ncbi.nlm.nih.gov]

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]

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]

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]

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]

The prevalence of AIP may be underreported due to estimates based on patients with symptomatic disease only, rather than an enzyme mutation.1,4-6 Epidemiology of AHP In the US, the overall prevalence of people diagnosed with symptomatic AHP is approximately [porphyria.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]

The decrease in C-peptide levels in symptomatic AIP cases indicates that reduced insulin release is associated with enhanced disease activity and reduction in kidney function. [3] Epidemiology Frequency United States Estimates vary from 1-5 cases per [emedicine.medscape.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]

Pathophysiology The porphyrias are caused by inherited deficiencies of enzymes involved in heme synthesis.75 Heme is used in the bone marrow to make hemoglobin and in the liver to make cytochrome P-450 enzymes. [epilepsy.com]

Upregulation of ALAS1 (aminolevulinate acid synthase 1) is a central pathophysiologic mechanism underlying AHP, and leads to this toxic accumulation. [porphyria.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]

Hormone manipulation may be effective in preventing such attacks and some affected women have been treated with gonadotropin-releasing hormone analogues (GnRH or LHRH treatments such as Lupron) to suppress ovulation and prevent frequent, cyclic attacks [porphyriafoundation.org]

By blocking this early step of haem production in patients with AHP, givosiran is expected to prevent the next steps which produce substances that accumulate in the body and cause the symptoms of the disease. [io.nihr.ac.uk]

An important goal in the management of AHP is preventing irreversible long-term damage. THE BURDEN OF DELAYED DIAGNOSIS1,7,15-17 Delayed diagnosis and misdiagnoses can lead to unnecessary procedures. [thinkporphyria.eu]

Management includes the prevention of attacks (by avoiding causal factors) and the protection of skin from the light in cases of cutaneous manifestations. [orpha.net]