THIRD EDITION
Factsheet
Condition:
Acute intermittent porphyria
Inheritance:
Autosomal dominant
Genetic Etiology:
Mutation in HMBS gene, encoding porphobilinogen deaminase
Frequency:
1–2/100,000 in Europe, 1/10,000 in Sweden
Clinical features:
Intermittent episodes of abdominal pain, nausea, vomiting, abdominal distention, constipation or diarrhea; progressive peripheral neuropathy leading to weakness; progressive psychiatric disorder. Attacks precipitated by exposure to specific environmental agents, including alcohol and many medications.
Management:
Avoidance of exposure to inciting agents; acute attacks treated with intravenous dextrose and hemin.
Genetic counseling:
Based on autosomal dominant inheritance; molecular genetic testing available.