Hereditary angioedema: approaches to diagnosis and treatment, analysis of a clinical family case

Abstract

Hereditary angioedema belongs to the group of rare, orphan, genetically determined defects that represent a significant medical and social problem due to the pronounced impact on the quality of life and potential mortality, as well as the emerging difficulties associated with timely diagnosis and the appointment of adequate treatment. The article presents data on the modern classification of hereditary angioedema, clinical manifestations of the disease, approaches to diagnosis verification and treatment principles. Therapy of hereditary angioedema is determined by the need for effective relief of acute attacks of the disease, prevention of edema before medical interventions, and, if indicated, long-term prophylaxis. The article discusses a differentiated approach to the treatment of hereditary angioedema, characterizes various options for therapeutic interventions. In a clinical case, the history of several generations of a family with manifestations of hereditary angioedema is described. A modern approach to the diagnosis of the disease based on detailed history, clinical symptoms, and laboratory research results has been demonstrated. The analysis of the effectiveness of treatment was carried out and the high efficiency of pathogenetic therapy of hereditary angioedema with human C1-esterase inhibitor was shown.

Keywords

• hereditary angioedema
• c1-inhibitor
• relief of acute attacks of hereditary angioedema
• short-term and long-term prophylaxis of hereditary angioedema
• human c1-esterase inhibitor