Clinical case of hereditary angioneurotic edema, conditioned by deficiency in the system of C1 complete

Clinical case of a patient with a rare orphan disease - hereditary angioedema is presented. Manifestations of the disease began at a young age after pregnancy, 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 genetic 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 ikatibant (“Firazir”) in a dose of 30 mg in accordance with Decree of the Government of the Russian Federation No. 403 of 04/26/2012 “On the Procedure for Maintaining the Federal Register of Persons with Life-threatening and Chronic Progressing rare (orphan) diseases leading to a reduction in the life expectancy of citizens or their disability." The hereditary nature of the disease necessitated an additional examination of the patient’s sons, who also confirmed a deficiency in the C1 complement system