Acute intermittent porphyria E80.2

Last updated on: 29.10.2020

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Synonym(s)

Acute intermittent porphyria; AIP; Porphyria acuta intermittens; Porphyria acute intermittent; Porphyria hepatica acuta; Porphyria hepatica acuta Swedish type; Swedish guy

History
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Stokvis, 1889; Waldenström, 1937

Definition
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Form of hepatic porphyria with acute upper abdominal pain and very rarely with skin symptoms.

Occurrence/Epidemiology
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In most countries the most common form of porphyria. Prevalence: 5-10/100.000 inhabitants. In psychiatric patients 100/100,000 patients.

Etiopathogenesis
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Autosomal dominant inherited defects of the porphobilinogen deaminase (PBG-D; gene locus: 11q23.3). During asymptomatic phases the enzyme activity is sufficient for porphyrin synthesis. Acute porphyria attacks occur when the heme synthesis is increased by trigger factors and the existing enzyme activity is no longer sufficient to convert metabolites produced, so that porphobilinogen accumulates in the liver (enzyme overproduction syndrome).

  • Trigger factors (anamnestically detectable in > 90% of cases):
    • Low carbohydrate nutrition
    • Medication: Barbiturates, ergotamine, chlordiazepoxide, analgesics, antihypertensives, anticonvulsants, antibiotics, antifungals (e.g. griseofulvin), narcotics, steroid hormones, sulfonamides, sulfonylureas, tranquilizers
    • Stress
    • Alcohol abuse
    • Infections
    • Surgical procedures.

Manifestation
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Mainly 20 to 40 years of age, rarely prepubertal, preferentially occurring in women (w:m=2:1)

Clinical features
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Colicky attacks of pain, possibly vomiting and constipation, red coloration of the urine. Tachycardia, hypertension, paresis of extremities, respiratory muscles, larynx or head nerves. Polyneuritis. Skin lesions are rare. Hyperpigmentation can occur in light-exposed areas.

Laboratory
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Brown coloration of the urine during acute attacks. Increased ALA and PBG in the blood. Often hypercholesterolemia. Detection of reduced activity of PBG deaminase in erythrocytes.

Diagnosis
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Medical history, labs, clinic.

Complication(s)
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Increased incidence of hepatocellular carcinomas.

Therapy
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Specific therapies are not known. Identification and avoidance of triggering noxins. Therapy of acute symptoms (see below porphyry syndrome, acute).

Literature
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  1. Filiotou A et al (2002) Acute intermittent porphyria and systemic lupus erythematosus: report of a case and review of the literature. Lupus 11: 190-192
  2. Floderus Y et al (2002) Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene. Clin Genet 62: 288-297
  3. Stokvis BJ (1889) Over two dozen different types of glue in the urine of zieken. Ned Tijschr Geneeskd 33(II): 409-417
  4. Waldenström J (1937) Studies on porphyria. Acta Med Scand 82 (Suppl): 1-254
  5. Warholm C et al (2003) Renal transplantation in a case of acute intermittent porphyria. J Clin Pharmacol 43: 1158-1160

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020