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.