Acute intermittent porphyriaE80.2

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

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Last updated on: 07.10.2021

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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

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HistoryThis section has been translated automatically.

Stokvis, 1889; Waldenström, 1937

DefinitionThis section has been translated automatically.

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

Occurrence/EpidemiologyThis section has been translated automatically.

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

EtiopathogenesisThis section has been translated automatically.

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.

ManifestationThis section has been translated automatically.

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

Clinical featuresThis section has been translated automatically.

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.

LaboratoryThis section has been translated automatically.

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.

DiagnosisThis section has been translated automatically.

Medical history, labs, clinic.

Complication(s)This section has been translated automatically.

Increased incidence of hepatocellular carcinomas.

TherapyThis section has been translated automatically.

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

LiteratureThis section has been translated automatically.

  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

Authors

Last updated on: 07.10.2021

Authors: Prof. Dr. med. Peter AltmeyerProf. Dr. med. Martina Bacharach-Buhles