Publications

A huge gap is known to exist worldwide between the wealth of information on Hereditary Angioedema (HAE) and the current level of health care services rendered to afflicted patients. HAE is an uncommon disorder and therefore, centralizing the management and follow-up of patients is a prerequisite to efficient care. This is substantiated by examples from several countries, where high-quality patient care has been developed through many years of diligent effort and complex co-operation with the self-help organizations of patients. Efficient HAE centers can assist regions where patients are unable to access appropriate care owing to the insufficient knowledge of medical professionals; lack of diagnostic facilities; or because adequate therapy is unaffordable. Deliberate distribution of experience and support for establishing the necessary infrastructure can accelerate the foundation of HAE centers in these countries, and this shall provide the means for the rapid and efficient delivery of services for large patient populations. The Regional HAE Network was established in 2004 by The National Angioedema Center in Hungary. A three-year development program has been drafted focusing on education, the introduction of state-of-the-art diagnostic and therapeutic methods, as well as the organization of a nationwide HAE registry and patient organization. Individual chapters of this project have already been launched in Ukraine.

As a second stage of this activity, on 11 March 2005 the first workshop on hereditary angioedema in Bulgaria was held. The title of the meeting was “HEREDITARY ANGIOEDEMA – DIAGNOSTICS, THERAPY AND EPIDEMIOLOGY”. More than 30 medical professionals with different specialties from all over the country were attending this important scientific event. Official guest was Prof. Iovchev – the dean of the faculty of medicine at the Medical University of Plovdiv. The workshop was supported by the Foundation for the Prevention and Treatment of Fatal Angioedematous Disease (Hungary), Medical University of Plovdiv and the Rotary club – Plovdiv.

The meeting started with an introduction by Prof. Margarita Stefanova, who framed the tasks of the workshop and presented the speakers. The lecturers and titles of their presentations are given below.

Dr. Henriette Farkas, MD, PhD
Department of Internal Medicine, Semmelweis University, Budapest, Hungary
Clinics, diagnosis and therapy of the hereditary angioedema

Dr. Lilian Varga, PhD
Complement Laboratory, Semmelweis University, Budapest, Hungary
Centre for Hereditary Angioedema

Dr. Petar Krastev, MD
Medical University of Plovdiv, Bulgaria
Epidemiology and genealogical investigations of the hereditary angioedema in Bulgaria

Dr. Maria Staevska, MD
Medical University of Sofia, Bulgaria
From the first patient to molecular studies: 32 years of HAE research in Bulgaria

Dr. Rumen Stefanov, MD, PhD
Information Centre for Rare Diseases and Orphan Drugs
Necessity for increasing the knowledge of medial professionals about rare diseases and orphan drugs

As a result of the workshop, an initiative group was established and after a thorough discussion on the current organization of diagnosis, treatment and healthcare of HAE patients in Bulgaria has made the following comments and suggestions:
1. HAE patients in Bulgaria have been treated at different medical departments and by different kind of specialists, not able to receive adequate diagnosis, treatment and healthcare.
2. The specialized and appropriate diagnostic sera and molecular tests were not available in Bulgaria so far.
3. A working group of experts must be created, in order to establish a national network of referring clinicians for diagnosis and treatment of HAE patients.

The initiative group has also suggested and agreed on the following measures for improvement of diagnosis, treatment and healthcare of HAE patients in Bulgaria:
1. Establishment of HAE center in Plovdiv, referring for all Bulgarian HAE patients. There will be two clinicians, responsible for the diagnosis, treatment and healthcare of HAE patients in Plovdiv and also 3 experts from the Medcial Universities in Sofia, Pleven and Varna.
2. Dr. Farkas and Varga kindly offered to provide a specialized training for two clinicians in Hungary. As a result, Dr. P. Krastev and Dr. Kralimarkova are expected to begin their training in Budapest in June or July 2005.
3. Dr. Farkas and Varga will provide immunological diagnostic tests for HAE to the Department of immunology at the Medical University of Plovdiv. Prof. Murdjeva will be in charge to establish and validate the methodology. The laboratory of Dr. Farkas and Varga in Budapest will be a reference lab for parallel testing of samples and validation. Expected start – in May 2005.
4. As a very important point is considered increasing the awareness and knowledge about HAE among medical specialists and patients in Bulgaria. Dr. Krastev will prepare a review paper to be published in a leading Bulgarian medical journal. Apart from this, he is going to make a dedicated presentation at the annual Meeting of Bulgarian Society of Immunology, to be hold in Sofia in April. Dr. R. Stefanov will provide further possibilities for spreading the information online by the site of the Information Centre for Rare Disease and Orphan Drugs (ICRDOD) – www.raredis.org.
5. The Department of Medical Genetics at the Medical University of Plovdiv will provide genetic counseling to HAE patients and will prepare a project for establishment and acquisition of molecular technique for diagnosing HAE.
6. The Director of Information Centre for Rare Disease and Orphan Drugs (ICRDOD), Dr. Rumen Stefanov kindly agrees to undertake the administration, coordination and spreading the information about the HAE center in Bulgaria as well as to make initiatives for lobbying for adequate state response to questions, concerning the reimbursement of diagnosis and treatment of HAE patients.

For more information, comments and questions, please send an e-mail to info@raredis.org or click