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[Acute intermittent porphyria].

Geir Tollåli1, Erik Waage Nielsen, Ole-Lars Brekke

  • 1Medisinsk avdeling Nordland Sentralsykehus 8092 Bodø. geir.tollali@nss.nl.no

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|June 5, 2002
PubMed
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Acute intermittent porphyria (AIP) is an inherited disorder affecting heme biosynthesis. A specific mutation leads to a high prevalence in Saltdal, Norway, underscoring the need for accurate diagnosis.

Area of Science:

  • Biochemistry
  • Genetics
  • Heme Biosynthesis

Context:

  • Acute intermittent porphyria (AIP) is an autosomal dominant genetic disorder.
  • It results from mutations in the porphobilinogen deaminase (PBG-D) enzyme gene, crucial for heme biosynthesis.
  • Geographical variations in prevalence are observed.

Purpose:

  • To provide a literature-based review of acute intermittent porphyria (AIP).
  • Emphasis on epidemiological findings, diagnostic approaches, and therapeutic strategies.
  • Highlighting the significance of geographical prevalence data.

Summary:

  • Reduced PBG-D enzyme activity in heterozygotes is usually sufficient, but attacks occur when heme synthesis is stimulated.
  • Attacks manifest with abdominal pain, neuropathy, autonomic dysfunction, and seizures, triggered by factors like drugs, alcohol, or starvation.

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  • Hepatic carcinoma is a potential complication in long-term AIP patients.
  • Intravenous glucose or hemin (heme arginate) are acute treatments.
  • A high prevalence of 600/100,000 was noted in Saltdal, Norway, contrasting with the general European rate of 1-2/100,000.
  • A specific W198X mutation in the PBG-D gene is identified in families in Saltdal and northern Sweden.

    • Impact:

    • Accurate diagnosis is critical for preventing AIP attacks and associated complications.
    • Understanding geographical prevalence, like the high rate in Saltdal, Norway, is key for targeted public health strategies.
    • Identifying specific mutations aids in genetic counseling and understanding disease transmission.