ArticleClinical and molecular allergy : CMA2021
Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene.
Article in Clinical and molecular allergy : CMA, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 29 citations in OpenAlex.
- Prevalence and Incidence of Hereditary Angioedema: A Systematic Literature Review.International archives of allergy and immunology · 2026Pooled it
- Epidemiology, economic, and humanistic burden of hereditary angioedema: a systematic review.Orphanet journal of rare diseases · 2024Pooled it
- The 2025 WAO Guidelines for the classification, diagnosis, and treatment of hereditary angioedema, with consideration of worldwide disparities.The World Allergy Organization journal · 2026Article
- Isolated gastrointestinal hereditary angioedema associated with a pathogenicFrontiers in medicine · 2026Article
- A Rare Case of Hereditary Angioedema in a 7-Year-Old Girl: Presentation, Diagnosis, and Bridging the Management Gap.Case reports in medicine · 2026Article
- Treatment of Hereditary Angioedema With Plasma-Derived C1 Inhibitor: A Review.Clinical and translational allergy · 2025Review
- Real-world treatment patterns and burden-of-disease of sub-optimally controlled hereditary angioedema.The World Allergy Organization journal · 2025Article
- N-glycosylation in the SERPIN domain of the C1-esterase inhibitor in hereditary angioedema.JCI insight · 2025Article
- Assessment of potential drug-drug interactions in patients with hereditary angioedema from the ITACA cohort: simulations from a real-life dataset considering danazol versus berotralstat.Frontiers in pharmacology · 2025Article
- Hereditary angioedema in children: Review and practical perspective for clinical management.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2024Review
- Hereditary angioedema prevalence and satisfaction with prophylaxis in South Australia.The World Allergy Organization journal · 2024Article
- Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants inThe World Allergy Organization journal · 2024Article
- Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.Journal of clinical immunology · 2023Article
- Hereditary angioedema (HAE) in Belgium: results from a national survey.Frontiers in allergy · 2023Article
- Altered Urinary Metabolomics in Hereditary Angioedema.Metabolites · 2022Article
- Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.Hereditas · 2022Article
- The international WAO/EAACI guideline for the management of hereditary angioedema - The 2021 revision and update.The World Allergy Organization journal · 2022Article
- Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.Frontiers in allergy · 2022Article
- Clinical Characteristics and Management of Angioedema Attacks in Polish Adult Patients with Hereditary Angioedema Due to C1-Inhibitor Deficiency.Journal of clinical medicine · 2021Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundHereditary 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.
methodsData 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.
resultsWe 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.
conclusionsC1-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.
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