Open AccessTHE GENETIC AND CLINICAL ASPECTS OF HAE, NEWPOSSIBILITIES OF THE DISEASE EXACERBATIONS TREATMENT
Author(s) -
Т. В. Латышева,
A. V. Polyakov,
A V Dmitrieva,
E N Medunitsyna,
Т. В. Латышева,
A. V. Polyakov,
A V Dmitrieva,
E N Medunitsyna
Publication year - 2011
Publication title -
rossijskij allergologičeskij žurnal
Language(s) - English
Resource type - Journals
eISSN - 2686-682X
pISSN - 1810-8830
DOI - 10.36691/rja774
Subject(s) - hereditary angioedema , disease , medicine , c1 inhibitor , orphan drug , intensive care medicine , clinical practice , rare disease , genetic diagnosis , angioedema , immunology , bioinformatics , genetics , family medicine , biology , gene
Continued study of genetic and clinical aspects of hereditary angioedema (HAE) types I and II, which belongsto the group of primary (genetically determined) immunodeficiencies and is connected with the qualitative orquantitative genetically determined defect of C1 Inhibitor. HAE is an «orphan» disease and requires the establishmentof 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 andintroduce 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 attackshas been appeared. Integrated assessment of the problems of diagnostics and treatment of HAE and theirconsistent solution will significantly improve the quality of life of HAE patients.