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Hereditary angioedema in Belarus: epidemiology, genetics, access to diagnosis and therapy
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  • Irina Guryanova,
  • Chiara Suffritti,
  • Debora Parolin,
  • Andrea Zanichelli,
  • Nastassia Ishchanka,
  • Ekaterina Polyakova,
  • Mikhail Belevtsev,
  • Francesca Perego,
  • Marco Cicardi,
  • Yulia Zharankova,
  • Sonia Caccia,
  • Antonio Gidaro
Irina Guryanova
Belarus Republican Scientific and Practical Center for Pediatric Oncology Hematology and Immunology
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Chiara Suffritti
ASST Fatebenefratelli Sacco
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Debora Parolin
University of Milan Department of Biomedical and Clinical Sciences Luigi Sacco
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Andrea Zanichelli
ASST Fatebenefratelli Sacco
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Nastassia Ishchanka
ASST Grande Ospedale Metropolitano Niguarda
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Ekaterina Polyakova
Belarus Republican Scientific and Practical Center for Pediatric Oncology Hematology and Immunology
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Mikhail Belevtsev
Belarus Republican Scientific and Practical Center for Pediatric Oncology Hematology and Immunology
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Francesca Perego
Istituti Clinici Scientifici Maugeri SpA IRCCS Milano
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Marco Cicardi
Istituti Clinici Scientifici Maugeri SpA IRCCS Milano
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Yulia Zharankova
Belarus Republican Scientific and Practical Center for Pediatric Oncology Hematology and Immunology
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Sonia Caccia
University of Milan Department of Biomedical and Clinical Sciences Luigi Sacco
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Antonio Gidaro
ASST Fatebenefratelli Sacco
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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. Seventeen (44.7%) underwent ODT: 6 (15.8%) with appropriate treatments, and 11 (28.9%) with inappropriate treatments. Nine (23.6%) used LTP with attenuated androgens and twelve (31.5%) 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.