Hereditary angioedema due to C1 inhibitor In Belarus: epidemiology,
access to diagnosis and seven novel mutations in SERPING1 gene
Abstract
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a
rare disease. Few states in developing countries have an adequate
management of HAE, but none of them belongs to the former USSR area.
This study analyses data from C1-INH-HAE patients from Belarus. Data
about clinical characteristics, genetics, access to diagnosis and
treatment were collected from 2010 by the Belarusian Research Center for
Pediatric Oncology, Hematology and Immunology in Minsk. A questionnaire
about attacks, prophylactic (LTP) and on-demand therapy (ODT) was
administered to patients. We identified 64 C1-INH-HAE patients belonging
to 26 families, 27 (42.2%) of which were diagnosed in the last 3 years.
The estimated minimal prevalence was 1:148000. Median age at diagnosis
was 29 years, with diagnostic delay of 19 years. Thirty-eight patients
answered a questionnaire about therapy. Twenty-seven patients underwent
ODT: 9 (33.3%) with appropriate treatments, and 18 (66.7%) with
inappropriate treatments. Nine patients used LTP with attenuated
androgens and eleven recovered spontaneously. Thirty-two patients
answered a questionnaire about attacks and triggers: 368 angioedema
attacks were reported, with an average of 10 attacks per year. We found
24 different SERPING1 variants: 9 missenses, 6 in splice sites, 6 small
deletions, 2 nonsense, 1 large deletion; 7 have not been previously
described. De novo variants were found in 11 patients. C1-INH-HAE
diagnosis and management in Belarus is improved as seen from the high
number of new diagnosis in the last 3 years. Next steps will be to
reduce the diagnostic delay and to promote the LTP and OTD.