THE GENETIC AND CLINICAL ASPECTS OF HAE, NEWPOSSIBILITIES OF THE DISEASE EXACERBATIONS TREATMENT



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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.

About the authors

Tat'yana Vasil'evna Latysheva

Email: tvlat@mail.ru

A V Polyakov

A V Dmitrieva

E N Medunitsyna

T V Latysheva

Institute of Immunology Moscow, Russia

Institute of Immunology Moscow, Russia

A V Polyakov

Research Centre for Medical Genetics, RAMS

Research Centre for Medical Genetics, RAMS

A V Dmitrieva

Institute of Immunology Moscow, Russia

Institute of Immunology Moscow, Russia

E N Medunitsyna

Institute of Immunology Moscow, Russia

Institute of Immunology Moscow, Russia

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