Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene.

Autor: Guryanova I; Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus. guryanovairina1985@gmail.com., Suffritti C; General Medicine Department, ASST-Fatebenefratelli-Sacco, Milan, Italy., Parolin D; Department of Biomedical and Clinical Sciences Luigi Sacco, Università Degli Studi Di Milano, Milan, Italy., Zanichelli A; General Medicine Department, ASST-Fatebenefratelli-Sacco, Milan, Italy., Ishchanka N; ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy., Polyakova E; Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Belevtsev M; Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Perego F; Department of Subacute Therapy, IRCCS-Istituti Clinici Scientifici Maugeri, Milan, Italy., Cicardi M; Department of Subacute Therapy, IRCCS-Istituti Clinici Scientifici Maugeri, Milan, Italy., Zharankova Y; Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Konoplya N; Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Caccia S; Department of Biomedical and Clinical Sciences Luigi Sacco, Università Degli Studi Di Milano, Milan, Italy., Gidaro A; General Medicine Department, ASST-Fatebenefratelli-Sacco, Milan, Italy.
Jazyk: angličtina
Zdroj: Clinical and molecular allergy : CMA [Clin Mol Allergy] 2021 Apr 07; Vol. 19 (1), pp. 3. Date of Electronic Publication: 2021 Apr 07.
DOI: 10.1186/s12948-021-00141-0
Abstrakt: Background: 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.
Methods: 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.
Results: 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 1:148,000. Median age at diagnosis was 29 years, with diagnostic delay of 19 years. Thirty-eight patients answered a questionnaire about therapy. Eleven patients did not use any treatment to resolve HAE attacks. Twenty-seven patients underwent ODT: 9 with appropriate treatments, and 18 with inappropriate treatments. Nine patients used LTP with attenuated androgens and 1 with tranexamic acid. 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.
Conclusions: 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 ODT.
Databáze: MEDLINE
Externí odkaz: