Hereditary angioedema caused by a new mutation of the SERPING1 gene (case report)

Abstract

Hereditary angioedema is an orphan, genetically determined disease. Today it is one of the most difficult and urgent problems for doctors of all specialties. Repeated potentially dangerous local edema of the skin, mucous membranes and submucosal membranes, as well as a variety of clinical masks of the disease can cause inadequate therapy, unnecessary surgical interventions, disability of patients and pose a threat to their lives. The article presents a clinical case of a disease determined by a new variant of the SERPING1 gene mutation, previously undescribed in the literature and databases.1442_1443insGCTGCGTGCT [p.(Trp482Leufs*19)] in a heterozygous state. Clinical symptoms manifested themselves in the form of abdominal attacks and angioedema, and a quantitative decrease in the level of the C1 inhibitor was found. The identification and study of new mutations in the SERPING1 gene will not only confirm the diagnosis in a timely manner, but also prevent hereditary angioedema.