Diagnosis of Acute Intermittent Porphyria (HMBS Gene)

Acute intermittent porphyria (AIP) is the most common and severe form of acute hepatic porphyrias. It is caused by a deficiency of one of the enzymes of the heme biosynthesis system – hydroxymethylbilane synthase (HMBS). It is inherited in an autosomal dominant manner with incomplete penetrance; however, the probability of its clinical manifestation in carriers of variants in the HMBS gene is only 10-20%. Factors provoking the development of an attack include certain medications, the luteal phase of the menstrual cycle, hormonal contraceptives, fasting and a low-calorie diet, alcohol, stress, infections, etc. Since the menstrual cycle is the main endogenous provoking factor, women aged 20 to 45 years account for more than 80% of patients with acute porphyria. The disease has a paroxysmal course. The most characteristic manifestations are abdominal pain and polyneuritis.

Within 11 days. The specified time does not include the day of biomaterial collection