, CLINICAL CASE OF HEREDITARY ANGIONEUROTIC EDEMA, CONDITIONED BY DEFICIENCY IN THE SYSTEM OF C1 COMPLETE // BSU bulletin. Medicine and pharmacy. - 2019. №2. . - С. 18-24.

CLINICAL CASE OF HEREDITARY ANGIONEUROTIC EDEMA, CONDITIONED BY DEFICIENCY IN THE SYSTEM OF C1 COMPLETE

DOI: 10.18101/2306-1995-2019-2-18-24 UDK: 615,36

Сlinical case of a patient with a rare orphan disease — hereditary angioedema is presented. Manifestations of the disease began at a young age after preg- nancy, in the form of local edema syndrome and abdominal pain syndrome, and significantly reduced the patient's quality of life. A positive family history was established in the sons. The diagnosis was confirmed by a quantitative blood test for C1 inhibitor, which amounted to 0.0591 g / l. A molecular ge- netic analysis was also performed that revealed the pathogenic variant c.685 + 1G> A (IVS4 + 1G> A) in a heterozygous state, which confirms the diagnosis of hereditary angioedema. In dynamics, the disease progressed with damage to the larynx, which necessitates the appointment of specific therapy with ikati- bant (“Firazir”) in a dose of 30 mg in accordance with Decree of the Govern- ment of the Russian Federation No. 403 of 04/26/2012 “On the Procedure for Maintaining the Federal Register of Persons with Life-threatening and Chron- ic Progressing rare (orphan) diseases leading to a reduction in the life expec- tancy of citizens or their disability." The hereditary nature of the disease ne- cessitated an additional examination of the patient’s sons, who also confirmed a deficiency in the C1 complement system

hereditary angiоotek, complement system, C1-inhibitor, danazol, firazir, tranexam.