Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene
Abstract 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 Da...
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| Format: | Article |
| Language: | English |
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BMC
2021-04-01
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| Series: | Clinical and Molecular Allergy |
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| Online Access: | https://doi.org/10.1186/s12948-021-00141-0 |
| _version_ | 1818937493095972864 |
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| author | Irina Guryanova Chiara Suffritti Debora Parolin Andrea Zanichelli Nastassia Ishchanka Ekaterina Polyakova Mikhail Belevtsev Francesca Perego Marco Cicardi Yulia Zharankova Natalya Konoplya Sonia Caccia Antonio Gidaro |
| author_facet | Irina Guryanova Chiara Suffritti Debora Parolin Andrea Zanichelli Nastassia Ishchanka Ekaterina Polyakova Mikhail Belevtsev Francesca Perego Marco Cicardi Yulia Zharankova Natalya Konoplya Sonia Caccia Antonio Gidaro |
| author_sort | Irina Guryanova |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-20T05:52:50Z |
| format | Article |
| id | doaj.art-2bdbd634c5f04df49a6a4ca22be184ec |
| institution | Directory Open Access Journal |
| issn | 1476-7961 |
| language | English |
| last_indexed | 2024-12-20T05:52:50Z |
| publishDate | 2021-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Clinical and Molecular Allergy |
| spelling | doaj.art-2bdbd634c5f04df49a6a4ca22be184ec2022-12-21T19:51:07ZengBMCClinical and Molecular Allergy1476-79612021-04-011911810.1186/s12948-021-00141-0Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 geneIrina Guryanova0Chiara Suffritti1Debora Parolin2Andrea Zanichelli3Nastassia Ishchanka4Ekaterina Polyakova5Mikhail Belevtsev6Francesca Perego7Marco Cicardi8Yulia Zharankova9Natalya Konoplya10Sonia Caccia11Antonio Gidaro12Belarusian Research Center for Pediatric Oncology, Hematology and ImmunologyGeneral Medicine Department, ASST-Fatebenefratelli-SaccoDepartment of Biomedical and Clinical Sciences Luigi Sacco, Università Degli Studi Di MilanoGeneral Medicine Department, ASST-Fatebenefratelli-SaccoASST Grande Ospedale Metropolitano NiguardaBelarusian Research Center for Pediatric Oncology, Hematology and ImmunologyBelarusian Research Center for Pediatric Oncology, Hematology and ImmunologyDepartment of Subacute Therapy, IRCCS-Istituti Clinici Scientifici MaugeriDepartment of Subacute Therapy, IRCCS-Istituti Clinici Scientifici MaugeriBelarusian Research Center for Pediatric Oncology, Hematology and ImmunologyBelarusian Research Center for Pediatric Oncology, Hematology and ImmunologyDepartment of Biomedical and Clinical Sciences Luigi Sacco, Università Degli Studi Di MilanoGeneral Medicine Department, ASST-Fatebenefratelli-SaccoAbstract 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.https://doi.org/10.1186/s12948-021-00141-0BelarusC1 inhibitorHereditary angioedema (HAE)Rare diseaseSERPING1 variants |
| spellingShingle | Irina Guryanova Chiara Suffritti Debora Parolin Andrea Zanichelli Nastassia Ishchanka Ekaterina Polyakova Mikhail Belevtsev Francesca Perego Marco Cicardi Yulia Zharankova Natalya Konoplya Sonia Caccia Antonio Gidaro Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene Clinical and Molecular Allergy Belarus C1 inhibitor Hereditary angioedema (HAE) Rare disease SERPING1 variants |
| title | Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene |
| title_full | Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene |
| title_fullStr | Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene |
| title_full_unstemmed | Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene |
| title_short | Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene |
| title_sort | hereditary angioedema due to c1 inhibitor deficiency in belarus epidemiology access to diagnosis and seven novel mutations in serping1 gene |
| topic | Belarus C1 inhibitor Hereditary angioedema (HAE) Rare disease SERPING1 variants |
| url | https://doi.org/10.1186/s12948-021-00141-0 |
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