We are pleased to present you the first issue of BAPES official newsletter. It will bring together all BAPES current projects and will provide brief summaries on their most important aspects. The newsletter will contain media coverage of recent rare diseases events, interviews, medical descriptions and periodical reports, it will be published on two-month basis. An automatic subscribe system will be added soon.
Publications
In November 2010 BAPES together with the Bulgarian Association “Wilson Disease” started a joint project – National registry of Wilson disease patients. A standardized registration card, developed by BAPES and covering a minimal data set, was used. Medical professionals from the gastroenterology departments of the university hospitals have help filling the cards. A total of 158 patients were identified by the pilot survey. Men were 56.25% (89 persons), women – 43.75% (69). Average age of the patients was 33.96±0.97 years, varying from 9 to 65 years. Patients are treated and followed up in 5 university centres – “St. Ivan Rilski” University Hospital, Sofia (47.47%), University Pediatric Hospital, Sofia (4.43%), “St. George” University Hospital, Plovdiv (10.76%), “St. Marina” University Hospital, Varna (25.95%), “Dr. G. Stranski” University Hospital, Pleven (11.39%).
The Bulgarian National chronic myeloid leukemia (CML) patients registry was started in November 2010 by concluding the first epidemiological study of CML patients. This project is implemented jointly with the Bulgarian Scientific Society of Clinical and Transfusion Hematology and Medical Center “RareDis”. After processing the information a total of 248 CML patients was registred. The proportion of men is 50.40% (125 patients), while that of women is 49.60% (123 patients). Standardized annual prevalence is 3.27 per 100 000 people. The average age of registered patients is 53.86 ± 15.33 years. At the time of the study, patients were treated and followed up in eight hospitals in the country, primarily in university hospitals: 2 centres in Sofia – National Hematology Hospital with 78 (31.50%) patients and “Alexandrovska” University Hospital with registered 29 (11.60%) patients, Plovdiv – 56 patients (22.60%), Varna – 48 patients (19.40%), Pleven – 27 patients (10.90%), Ruse – 5 patients (2.00%), Haskovo – 4 patients (1.60% ) and Vidin – 1 patient (0.60%). Patients from Ruse, Vidin and Haskovo receive medicinal therapy at the university clinics and are followed up by a hematologist in their home town. An update of the information on registered patients with CML, as well as registration of new cases will be held in 2011.
ICRDOD announces the publication of the next of its reviews, now on the actual situation and tendencies in the rare diseases field in Bulgaria. It contains 5 main chapters: methodology and governance of the Bulgarian National plan for rare diseases (2009 – 2013); definition, codification and inventorying of rare diseases; research on rare diseases; centres of expertise, reference networks and access to orphan drugs; patient empowerment. Our analysis is based on three main documents – EU Council recommendation on action in the field of rare diseases, EUROPLAN recommendations and the Bulgarian National plan for rare diseases. The comments and suggestions, which came from the participants of the EUROPLAN Bulgarian National Conference for Rare Diseases, have been had in mind when completing the explored indicators. You can read the review at the Registries & Statistics section.
Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) is pleased to present the book “On Yesterday, Today and Tomorrow”. It contains the stories of 9 Bulgarian patients with rare diseases and their families. They describe their fears and hopes, their daily struggle to change the status quo. ICRDOD would like to thank the co-authors Maria Kancheva, Yordanka Petkova, Svetlana Atanasova, Elena Dimova, Desislava Hristakeva, Aneta Feodorova, Albena Dimitrova, Elena Eneva, Tsvetelina Yurukova, and Ina Stoitsova for her wonderful photographs. To read “On Yesterday, Today and Tomorrow”, please click here.
Issue 1 / November 2010 (click here to read the PDF file, 0.98 MB)
The second phase of the project “National registry of patients with thalassemia major in Bulgaria” was successfully completed in October 2010. The aim was to update the information on patients who were registered during the first phase of the project and to register newly diagnosed and not yet registered patients with thalassemia major. A total of 241 questionnaires (18 for primary epidemiological information about newly diagnosed patients and 223 for data update) was collected with the active assistance of medical specialists from blood transfusion centers and thalassemia patient association. After statistical processing of the submitted data, it was found that the number of men is 126 (52.28%) and 115 (47.72%) for women respectively. The average age of patients with thalassemia major is 19.5 ± 11.9 years. Their treatment is conducted in 12 hospitals in the country and chelation therapy takes place in the blood transfusion specialized centers (Sofia – three centers, Plovdiv – two centers, Varna, Stara Zagora, Pleven, Burgas, Ruse, Yambol and Silistra). These results were discussed and adopted as official for the country at a workshop of the Expert group on thalassemia, held in Varna in November. A subsequent update and collection of new epidemiological data in will be organized in March-April 2011.
issue 1 / June 2010 (click here to read the PDF file, 150 KB)
Updated information from the National thalassaemia major registry was obtained in March 2010. Results show that there are 223 thalassaemia major patients in Bulgaria, who are treated in eight centres – Sofia (90), Plovdiv (54), Varna (26), Stara Zagora (23), Burgas (15), Pleven (9), Gabrovo (2). The crude prevalence for Bulgaria is 2.93/100 000 persons. The average age of the registered patients is 19.5 years. By the end of the year a process of updating and registration of new patients will be conducted too. More information about the results of the register can be found here.
The project is implemented as a result of the common work and cooperation between BAPES, ICRDOD, Medical Centre „RareDis“, Bulgarian Scientific Society of Clinical and Transfusion Hematology and regional transfusion hematology centres in Bulgaria. Its main purpose is to create an epidemiological tool for identifying and tracking each patient. The registry will help doctors, researchers and health authorities to determine prevalence, morbidity, long-term outcomes and quality of life of the Bulgarian patients with thalassaemia major. Moreover, this experience can be used as a model for creation of registries for other rare diseases.