It should be appreciated that there is some overlap, as patients with the acute hepatic porphyrias, hereditary coproporphyria hcp, and variegate porphyria vp may have cutaneous lesions, and the rare homozygous dominant forms of acute intermittent porphyria aip, hcp, and vp, as well as the rare homozygous recessive form of pct. However, it is not a reliable marker of acute intermittent porphyria because not all acute intermittent porphyria patients illicit a deficient pbgd in their red blood cells. Smoking induces heme synthesis and cytochrome p450 enzymes in the liver, and heavy smoking in patients with aip is related to more frequent attacks. Symptoms of an attack include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure, and high heart. Ala dehydratase porphyria adp and acute intermittent porphyria aip are accompanied by acute hepatic porphyria but not by photocutaneous porphyria, because their enzymatic defects do not result in an increase in porphyrin synthesis. Tissuespecific splicing mutation in acute intermittent porphyria. Acute intermittent porphyria history and exam bmj best. Panhematin is indicated for amelioration of recurrent attacks of acute intermittent porphyria temporally related to the menstrual cycle in susceptible women, after initial carbohydrate therapy is known or suspected to be inadequate. Intravenos hematinbehandling av akut intermittent porfyri. Acute porphyrias include forms of the disease that typically cause nervous system symptoms, which appear quickly and can be severe. Symptoms and signs included, at some stage in the course of his illness, abdominal pain, hypertension, redcoloured urine, hysterical behaviour, and peripheral neuritis. Your body needs a chemical called porphyrin to make heme, a part of rbc that carries oxygen. If you have variegate porphyria or hereditary coproporphyria, your skin may also be affected.
Acute porphyria is a disorder that affects how your body makes red blood cells rbc. The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and last a short time. Acute intermittent porphyria aip is an autosomal dominant metabolic disorder characterized by a deficiency in heme biosynthesis. Ala dehydratase porphyria adp and acute intermittent porphyria aip are accom panied by acute hepatic porphyria but not by photocutaneous porphyria. Acute intermittent porphyria aip, swedish porphyria, pyrroloporphyria, intermittent acute porphyria is an autosomal dominant disorder of low penetrance resulting from a partial deficiency of porphobilinogen deaminase pbgd, also known as hydroxymethylbilane synthase hmbs, previously called uroporphyrinogen i synthase, the third enzyme in. Pdf management of acute intermittent porphyria researchgate. An acute crisis of aip can present as a combination of symptoms, such as abdominal pain, autonomic dysfunction, hyponatremia, muscle weakness and neurological symptoms in the absence of others obvious causes. Helps in confirming a diagnosis of aip and in differentiating aip from other acute porphyrias. High levels of porphyrin can cause problems throughout your. Acute intermittent porphyria aip is a hereditary metabolic aberration resulting from a partial defect in the activity of the enzyme porphobilinogen deaminase pbdg during the course of haeme synthesis.
Acute intermittent porphyria annals of internal medicine. Pathophysiology, pharmacology and treatment of acute. Unlike the most common neurovisceral porphyria, acute intermittent porphyria aip, variegate porphyria vp, and hereditary coproporphyria. In variegate porphyria, the skin changes and attacks of acute porphyria may not occur at the same time. Acute intermittent porphyria an overview sciencedirect. Each of the eight enzymes involved in porphyrin synthesis can be defective and can produce a distinctive form of porphyria. Acute intermittent porphyria aip is a rare autosomal dominant metabolic disorder affecting the production of heme resulting from a deficiency of the porphobilinogen deaminase. An update of clinical management of acute intermittent porphyria. We present a patient with aip followed for 31 years with multiple episodes of hyponatremia during aip. The genetic defect is inherited as an autosomal dominant trait.
Nathan, living with ahp aip acute intermittent porphyria vp variegate porphyria hcp. Nov 11, 2015 acute intermittent porphyria aip is one of the liver hepatic porphyrias. Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Acute intermittent porphyria nord national organization. Acute intermittent porphyria aip, an autosomal dominant disorder, results from a deficiency of the enzyme hydroxymethylbilane synthase. Aip is a hepatic porphyria whereby the liver is the source of toxic heme metabolites. This enzyme deficiency can result in the accumulation of porphyrin precursors in the body. Despite being challenging, delivery of effective nursing care to patients with acute intermittent porphyria is a matter of utmost importance. Acute intermittent porphyria, the most common, has an incidence of 5 per 100,000 people. Treatment of the acute attack summary acute intermittent porphyria aip is a hereditary disorder characterized by an abnormality in the path way of heme biosynthesis, resulting in an overpro duction of precursors of heme. Acute intermittent porphyria associated with respiratory. About 80% of cases are acute intermittent porphyria aip, followed by variegate porphyria vp, hereditary coproporphyria hcp, and the extremely rare ala dehydratasedeficiency porphyria adp. The acute porphyrias acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and 5aminolaevulinic acid dehydratase deficiency porphyria are hereditary disorders of haem biosynthesis. The relation if any between acute intermittent porphyria and the pancreatic disease in our patient is obscure.
Acute intermittent porphyria is the commonest type. In the uk, the national acute porphyria service provides clinical advice and. All porphyrias result from partial deficiency of one of the enzymes of heme biosynthesis and, apart from the sporadic form of porphyria cutanea tarda, are. Smoking and recurrent attacks of acute intermittent porphyria. Acute intermittent porphyria aip is due to a deficiency of the third enzyme, the hydroxymethylbilane synthase, in heme biosynthesis. By the time i was 14, i had more unexplained attacks. Feb 03, 2020 acute porphyria is a disorder that affects how your body makes red blood cells rbc.
Acute intermittent porphyria aip is characterized by acute neuropsychiatric and potentially lifethreatening attacks precipitated by endogenous or environmental factors, such as. Pancreatic disease and acute intermittent porphyria. Acute intermittent porphyria is the commonest of the acute porphyrias. The anaesthetic management of patients with acute intermittent porphyria who require surgery is. Currently, scientists have focused on gene therapy as a. The risk is greatest in women coproporfieia than age 60 with acute intermittent porphyria fold increased risk above the general population risk. Autosomal recessive disorders rare diseases skin conditions resulting from errors in metabolism porphyrias. Acute abdominal pain is usually the first clinical expression of the disease.
An international journal of medicine, volume 28, issue 2, 1 april 1959, pages 183209, htt we use cookies to enhance your experience on our website. Only 2 other cases associating acute intermittent porphyria and a pancreatic disease have been reported so far. The clinical presentation of aip is highly variable and nonspecific. Liver transplantation as a cure for acute intermittent porphyria. You might have an imbalance of salt in your body along with this type of. An acute crisis of aip can present as a combination of symptoms, such as abdominal pain. Acute intermittent porphyria aip is a rare and potentially lifethreatening metabolic disorder. Modern diagnosis and management of the porphyrias uw. Each disease in this family results from deficiencies in a specific enzyme involved in the biosynthesis of heme also called the porphyrin pathway. Acute intermittent porphyria aip is a rare metabolic disease defined by mutations coding the deaminaze enzyme of porphobilinogen pbgd. In this paper, the diversity of symptoms and the difficult diagnosis of this condition are emphasized, and details concerning the treatment of this disorder in the intensive care unit are presented.
Porphyria prevents your body from creating enough enzymes to control the process, and porphyrin builds up. This treatment summary topic describes acute porphyrias. Porphyria and its neurologic manifestations jennifer a. Acute intermittent porphyria aip is a rare inherited metabolic disease due to a deficiency of the hydroxymethylbilane synthase hmbs in heme biosynthesis. Acute intermittent porphyria an overview sciencedirect topics. Acute intermittent porphyria diagnostic and treatment traps. Acute hepatic porphyrias acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and aminolevulinic acid dehydratase. Acute intermittent porphyria symptoms, diagnosis, treatment. Acute intermittent porphyria investigations bmj best. The symptoms of acute porphyria can develop quickly and last for days or weeks.
Research in the 1980s and 1990s led to the identification of the molecular defects in each type of porphyria 3. The most common symptom is severe abdominal pain, which may be accompanied by neurological and psychiatric symptoms fig fig2 2. In order to obtain an accurate diagnosis of acute porphyria, the knowledge and. The low levels of pbgd are generally not sufficient to cause symptoms. Nov 29, 2012 it should be appreciated that there is some overlap, as patients with the acute hepatic porphyrias, hereditary coproporphyria hcp, and variegate porphyria vp may have cutaneous lesions, and the rare homozygous dominant forms of acute intermittent porphyria aip, hcp, and vp, as well as the rare homozygous recessive form of pct. Porphyrias are somewhat misdiagnosed as a consequence of light symptoms in patients. Acute intermittent porphyria aip is characterized by acute neuropsychiatric and potentially lifethreatening attacks. We present a patient with aip followed for 31 years with multiple episodes of hyponatremia during aip exacerbations. A case history of a patient with acute intermitent porphyria is presented. To date, only 3 patients confirmed to have homozygous.
It manifests with occasional neuropsychiatric crises associated with overproduction of porphyrin precursors, aminolevulinic acid and porphobilinogen. Background acute intermittent porphyria aip, due to halfnormal hydroxymethylbilane synthase activity,is characterized by acute lifethreatening neurologic attacks whose etiology remains unclear. Acute intermittent porphyria genetic and rare diseases. Overall, porphyria cutanea tarda is the most common type of porphyria. Heme biosynthesis occurs throughout the body, but it is most prominent in the erythroblastic system and liver. The prevalence of aip may be underreported due to estimates based on patients with symptomatic disease only, rather than an enzyme mutation. Acute forms of porphyria can be lifethreatening, so a. This finding would be quite important if proved unequivocally, but such a claim is premature from the data presented.
Acute intermittent porphyria aip is an autosomal dominant metabolic disease of the liver that results from the partial deficiency of porphobilinogen deaminase pbgd and is characterized by lifethreatening, acute neurological attacks. Acute intermittent porphyria aip, swedish porphyria, pyrroloporphyria, intermittent acute porphyria is an autosomal dominant disorder of low penetrance resulting from a partial deficiency of porphobilinogen deaminase pbgd, also known as hydroxymethylbilane synthase hmbs, previously called uroporphyrinogen i synthase, the third enzyme in the heme biosynthetic pathway. Dyck mayo clinic, department of neurology, rochester, mn, usa introduction porphyrias are rare disorders of heme metabolism, each characterized by a defect in an enzyme required for the synthesis of heme. Despite important advances in the characterization of aip, the pathophysiology of the neurologic manifestations is not clearly understood. Acute intermittent porphyria aip is a disorder that is a member of a family of disorders referred to as the porphyrias. Acute intermittent porphyria aip is a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase also known as porphobilinogen deaminase. Acute intermittent porphyria aip is one of the liver hepatic porphyrias. By the 1960s, all known types of porphyria had been identified and environmental factors were shown to affect the disease course. Aip is caused by low levels of porphobilinogen deaminase pbgd, an enzyme also often called hydroxymethylbilane synthase. Acute intermittent porphyria aip is the most common acute. Acute intermittent porphyria investigations bmj best practice. For some forms of porphyria, the prevalence is unknown because many people with a genetic mutation associated with the disease never experience signs or symptoms.
Acute intermittent porphyria is the most common form of acute porphyria in most countries. Acute porphyrias treatment summary bnf content published. The patients are typically asymptomatic, with most. The inheritance of aip occurs in an autosomal dominant manner.
Mustajoki 1 claims to have described a new variant of acute intermittent porphyria. Pathogenesis, clinical manifestations, and diagnosis of acute intermittent porphyria. Acute intermittent porphyria is an autosomal dominant trait with variable clinical expression. Cep is an erythropopietic porphyria which differs from acute hepatic porphyrias that can be made worse by certain medications. My symptoms included tremors, seizures, sun burns and light sensitivity, frequent vomiting, abdominal pain, severe allbody pain, muscle weakness, memory loss, and diarrhea. Pdf management of acute intermittent porphyria eliane. In this disease, only acute attacks occur and the skin is never affected. There are 4 types of ahp, which stem from different enzyme deficiencies in the heme biosynthesis pathway in the liver. The clinical features of an acute attack vary greatly. We believe that acute intermittent porphyria should be. The diagnosis of porphyria can be obscure and the symptoms severe.
An update of clinical management of acute intermittent. Panhematin is a hemin for injection prescription medication used to relieve repeated attacks of acute intermittent porphyria related to the menstrual cycle in affected women, after initial carbohydrate therapy is known or suspected to be inadequate. Acute intermittent porphyria aip is characterised by neurovisceral crises the most common clinical presentation of which is abdominal pain. Pathogenesis and treatment of acute intermittent porphyria. The diagnosis of acute intermittent porphyria is present if there is a deficiency in pbgd levels in a normal red blood cell. An update of clinical management of acute intermittent porphyria elena pischik,1,2 raili kauppinen,1 1porphyria research unit, division of endocrinology, department of medicine, university central hospital of helsinki, helsinki, finland. It is characterized by an autosomal dominant enzymatic deficiency in porphobilinogen deaminase, which is a critical enzyme in the heme biosynthesis pathway. Although the exact prevalence is not known, the frequency of. Acute intermittent porphyria is the common form of acute porphyria. We report the case of a 53yearold woman, who was previously diagnosed with aip 5. Symptoms may last days to weeks and usually improve slowly after the attack. Dyck mayo clinic, department of neurology, rochester, mn, usa introduction. The incidence of the gene responsible for acute intermittent porphyria is thought to be 1 in 100,000 individuals.
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