Recent mapping of acute intermittent porphyria (AIP) in Sweden has Drugs contraindicated in acute porphyria (Läkemedel farliga vid akut porfyri), jointly. Pathogenesis and treatment of acute intermittent porphyria. R D Forrest [ PubMed]; Lithner F. Intravenös hematinbehandling av akut intermittent porfyri. 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.
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Acute intermittent porphyria AIPalso called Swedish porphyriapyrroloporphyriaintermittent acute porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme resulting from a deficiency of the porphobilinogen deaminase.
It is the most common of the acute porphyrias. The clinical presentation of AIP is highly variable and non-specific. The patients are typically asymptomatic, with most gene carriers having no family history because the condition had remained latent for several generations. AIP is one of the four porphyrias that presents as an acute attack.
Patients usually experience symptoms in attacks that last from several hours to a few days. Between attacks, patients are asymptomatic.
The most frequent presenting symptoms are abdominal pain and tachycardia. There are no pathognomonic signs or symptoms. The most common identified triggers for acute attacks are medications, weight loss dietsand surgery.
The initial diagnosis of acute porphyria is confirmed by urinalysis. A positive test should be indicated with an increase of five times normal, not just a slight increase which can which can occur with dehydration. Rapid, accurate diagnosis is important. Delays in diagnosis may result in permanent neurological damage or death.
Acute Intermittent Porphyria – GeneReviews® – NCBI Bookshelf
Porphyrias are caused by mutations in genes that encode enzymes in heme synthesis. In normal physiologyheme synthesis begins in the mitochondrionproceeds into the cytoplasmand finishes back in the mitochondrion.
In AIP, over mutations have been identified on the long arm of chromosome 11 at the HMBS gene, which codes for the cytoplasmic enzyme porphobilinogen deaminase. The exact mechanism of acute attacks not clear. The most favored hypothesis is that porpholobilinogen buildup causes a toxic effects on neurons. The autonomic and peripheral nervous system are more vulnerable than the central nervous system because they are not protected by the blood-brain barrier.
Some individuals may be more likely to develop paresis based on increased susceptibility of neurons to toxins. If drugs have caused the attack, discontinuing the offending imtermittant is essential. Hematin and heme arginate is the treatment of choice during an acute attack. Heme ;orfiria not a curative treatment, but can shorten attacks and reduce the intensity of an attack.
Side-effects are rare but can be serious. Pain should be treated as early as medically possible due to its severity. Nausea can be severe; it may respond to phenothiazine drugs but is sometimes intractable.
Hot water baths or showers may lessen nausea temporarily, but can present a risk of burns or falls. Seizures often accompany this disease. Most seizure medications exacerbate intermittang condition. Treatment can be problematic: Barbiturates and Primidone must be avoided as they commonly precipitate symptoms.
One of the many hypothesized diagnoses of the artist Vincent van Gogh is that he and his siblings, in particular his brother Theosuffered from AIP and syphilis. His great-great-great-great-grandson Prince William of Gloucester was reliably diagnosed with variegate porphyria in From Wikipedia, the free encyclopedia.
Medical Journal, Armed Forces India. Journal of Inherited Metabolic Disease. Annals of Clinical Biochemistry. The Journal of Emergency Medicine. A Diagnostic Challenge for Endocrinologist”. Clinics and Research in Hepatology and Gastroenterology. Montgomery; Bloomer, Joseph R. The American Journal of Medicine.
Porphyria, Acute Intermittent
Journal of Clinical Chemistry and Clinical Biochemistry. The Application of Clinical Genetics. Journal of the Royal Society of Medicine. Rousseau e la menzogna autobiografica” [The ego masks: Rousseau and the autobiographical lie]. Retrieved 18 November Revista Aleph in Spanish.
A Purple Canary: Life with Acute Intermittent Porphyria
Heme metabolism disorders E80 ALAD porphyria Acute intermittent porphyria. Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria.
Gilbert’s syndrome Crigler—Najjar syndrome Lucey—Driscoll syndrome. Dubin—Johnson syndrome Rotor syndrome. Retrieved from ” https: Porphyrias Autosomal dominant disorders.