Abstract

Continued study of genetic and clinical aspects of hereditary angioedema (HAE) types I and II, which belongs to the group of primary (genetically determined) immunodeficiencies and is connected with the qualitative or quantitative genetically determined defect of C1 Inhibitor. HAE is an «orphan» disease and requires the establishment of a Government strategy for patients with this rare diagnosis. To improve the quality of HAE diagnostics, the Institute of Immunology jointly with Medical Genetics Centre started the work in order to develop and introduce the methods of genetic screening of patients with recurrent angioedema into the national practice. In the world as well as in Russian medical practice a new generation of medicines for the treatment of HAE attacks has been appeared. Integrated assessment of the problems of diagnostics and treatment of HAE and their consistent solution will significantly improve the quality of life of HAE patients.

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