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From SNPedia
Acute intermittent porphyria
Is agenotype
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 Acute intermittent porphyria
(T;T) 5 Porphyria, acute intermittent

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Acute Intermittent Porphyria (AIP) is characterized by intermittent and sometimes life-threatening acute neurovisceral attacks of severe abdominal pain. Attacks are usually due to the additive effects of several triggers.
  • Mutations in the HMBS gene may lead to AIP.
  • Regular meals and symptomatic treatment of nausea and loss of appetite are important to help ensure an adequate diet and avoid precipitation of an attack.
  • Annual liver ultrasound screens should be considered for individuals aged >50 years.
  • Patients should avoid alcohol, smoking, medications, and illicit drugs that can trigger attacks.
  • Many (perhaps 80%?) of AIP mutation carriers remain asymptomatic and others may have only 1 or a few acute attacks throughout their life.

The full ClinGen Actionability report about Acute Intermittent Porphyria (AIP) can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.