Acute intermittent porphyria E80.2

Authors: Prof. Dr. med. Peter Altmeyer, Prof. Dr. med. Martina Bacharach-Buhles

Last updated on: 07.10.2021

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.

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Internal medicine

Exosoms

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

Trigger factors (anamnestically detectable in > 90% of cases):
- Low carbohydrate diet
- Medications: 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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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
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
Stokvis BJ (1889) Over two dozen different types of glue in the urine of zieken. Ned Tijschr Geneeskd 33(II): 409-417
Waldenström J (1937) Studies on porphyria. Acta Med Scand 82 (Suppl): 1-254
Warholm C et al (2003) Renal transplantation in a case of acute intermittent porphyria. J Clin Pharmacol 43: 1158-1160