Business Card: Assoc. Prof. Dr. Valeria Kaleva, PhD, is the Head of the Department of Pediatrics at Medical University - Varna and Head of the Children's Clinical Hematology and Oncology Clinic at University Hospital "St. Marina". She is a Chairperson of the Working Group on Hemophilia and Thalassemia at the Bulgarian Medical Society of Hematology and Head of the Centre of Expertise for Coagulopathies and Congenital Anemia at University Hospital "St. Marina" - Varna. She is a member of the Rare Diseases Commission of the Ministry of Health and of the National Hemophilia Council of AC "Partnership for Health" and Thalassemia and Haemophilia Expert of the National Health Insurance Fund.
Velina Markovska dealt with the subject
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Assoc. Prof. Kaleva, haemophilia is a disease that belongs to the group of rare diseases. What is its essence and specific characteristics?
Assoc. Prof. Kaleva: Hemophilia is the most common disease of the group of genetic coagulopathies. It occurs as a result of genetic deficiency of clotting factor VIII or IX, and depending on this it is divided into two types - hemophilia A and hemophilia B. Both are sex-linked (to X chromosome) recessive diseases affecting only men. Women are only "carriers" of hemophilia inheritance.
Clinically, it is presented with different types and severities of haemorrhage, which are generally post-traumatic and depend on the degree of deficiency of the clotting factor.
The most common initial symptoms occur in early infancy with bruising, subcutaneous and intramuscular hematomas. After the first steps of the child the first joint bleeding (haemarthrosis) occurs, which is the most typical manifestation of severe haemophilia. It affects the large joints of the limbs, and the most common places are the knees, followed by the elbows, ankles, shoulders and wrists. The final result of recurrent bleeding is the development of progressive joint and bone damage resulting in crippling arthritis and severe disability, known in the medical literature as haemophilic arthropathy. Muscle hematomas are the second most common manifestation of bleeding followed by bleeding in the soft tissues and the gastrointestinal tract. Patients with moderate and mild manifestation usually don't have the obvious symptoms of bleeding, and only severe injuries and surgeries are followed by hemorrhagic episodes. Women who are carriers of the hemophiliac gene usually have no clinical manifestations but female patients may have complaints such as easy bruising, prolonged menstrual bleeding, prolonged bleeding following trauma or operative manipulation, and the like.
Is there any difference in the disease incidence depending on the race?
Assoc. Prof. Kaleva: Haemophilia occurs with equal frequency in all ethnic groups and races, which for haemophilia A is approximately 1 in 6 000 male population and for hemophilia B - 1 in 30 000.
Is there a single registry of haemophilia patients? What is the number of affected people in Bulgaria?
Assoc. Prof. Kaleva: Rare Disease Registry, including genetic coagulopathies, is to be launched in Bulgaria in April this year. The registry is national and will allow an accurate assessment of the number, type and demographic characteristics of haemophilia patients in Bulgaria. The exact number of hemophiliacs worldwide is unknown, and according to different statistics it is over 440 000. For Bulgaria the number of patients is about 630 (560 with haemophilia A and 70 with haemophilia B), 110 of which are children.
Where are haemophilia patients diagnosed and treated?
Assoc. Prof. Kaleva: At European and world level, care for haemophilia patients is provided at specialized centres that have proven their great advantage in terms of both quality of care and cost-effectiveness related to diagnosis, traceability, prevention and treatment. This kind of medical establishments are regulated in Bulgaria (Ordinance № 16 of 30 July 2014 on the terms and conditions for registration of rare diseases and on the centres of expertise and reference networks for rare diseases.). At present in our country there are two certified centres of expertise of hemophilia - at University Hospital "St. Marina"- Varna and the National Specialized Hospital for Active Treatment of Hematological Diseases - Sofia. In 2014 both centers were admitted to the European Haemophilia Network (EUHANET) with a certificate and the status of a Centre for Complex Hemophilia Treatment and Haemophilia Treatment Centre, and in 2016 – in the European Reference Network on Rare Haematological Diseases (EuroBloodNet). At the beginning of 2014 the Haemophilia Centre at University Hospital "St. Marina" - Varna and the Haemophilia Centre at the University Hospital in Bonn, Germany, launched a twin programme with a grant from the World Federation of Haemophilia (WFH). Two years later the two twin centers were awarded with the highest award of WFH - Twins of the Year 2015.
At present patients with haemophilia and other coagulopathies are diagnosed, treated and monitored at the centres of expertise for hemophilia at the National Specialized Hospital for Active Treatment of Hematological Diseases - Sofia and UMHAT "St. Marina" - Varna, as well as at the specialized hematology clinics/Children's Hematology and Oncology at "Tsaritsa Yoanna - ISUL" – Sofia, UMHAT "St. George" - Plovdiv, UMHAT - Pleven and UMHAT - Stara Zagora. Interdisciplinary teams, including qualified hematologists and other profile specialists in the field of genetic coagulopathies work at these hospital structures. Diagnosis and treatment are performed in accordance with the requirements of the current European standards and the methodological guidelines for the treatment of blood and blood-borne organs in Bulgaria and are adequately applied to the existing restrictions related, on the one hand, to the insufficient quantities of clotting factors and, on the other hand, to the methodologies for funding these activities of NHIF and MH.
Assoc. Prof. Kaleva, you are the Head of the Centre of Expertise for Rare Diseases at University Hospital "St. Marina" - Varna. How does the Centre work and what therapies are applied?
Assoc. Prof. Kaleva: The Haemophilia Centre at University Hospital "St. Marina"- Varna is the first in the country Centre of Expertise for Rare Diseases, certified by the Ministry of Health. It is a part of the structure of the Children's Hematology and Oncology Clinic with the capacity to provide complex medical and social care for children and adults with haemophilia. This complex care includes 24-hour telephone connection and 24-hour emergency care, including consultations provided by a highly specialized interdisciplinary team of experts in the field of genetic coagulopathies - a hematologist, orthopedist, physiotherapist, geneticist, dentist, psychologist, and social worker. Our Centre carries out medical tests, dispensary monitoring of patients, co-ordination of hospital and outpatient services and control of home treatment. Our team maintains scientific and methodological relationships with national and foreign hemophilia centres and prepares information and educational programmes for patients and professionals.
Prophylactic treatment of patients in Bulgaria was launched at the beginning of 2011 at University Hospital "St. Marina", gradually including all children with severe haemophilia from the other hospitals in the country. Currently, all needy children in Bulgaria receive prophylaxis in optimal treatment regimens and a small proportion of the patients over 18 years of age with a history of life-threatening haemorrhage. The first in Bulgaria immune-tolerant treatment of a child with factor VIII inhibitors was performed at the Hemophilia Centre at University Hospital "St. Marina" - Varna In 2013, and practically this is the first and only patient up to now in the country cured from inhibitory hemophilia.
What problems do patients and their families face, and are patients able to live a full life in Bulgaria?
Assoc. Prof. Kaleva: Haemophilia patients have problems related to the nature of the disease itself. They are different in children and adults and depend mainly on the severity of the disease and the treatment being performed. Through proper prophylaxis children can have a full life without restricting their physical activity and their attendance at children and school settings. It is important for teachers and educators to be aware of the disease and to receive instructions for adequate response in case of occurrence of trauma or haemorrhage. A serious problem concerning prevention is the frequency of intravenous injections, which are administered two or three times a week and require a trained parent/family member or a medical professional available.
In adults haemophilia problems are most often related to the treatment of chronic arthropathy and chronic viral hepatitis (a consequence of treatment with plasma clotting factors with low viral inactivation) as well as social integration, including the choice of an appropriate profession.
The role of the relatives of haemophilia patients is very crucial. Usually they play an active part in providing home treatment and general care, and in most cases they act as health assistants. Families can receive the most serious and effective support from the centers of expertise - training, home care help, psychological support, meeting with patients, etc. Of course, there still remains the necessity for building a network of specialized hemophilia centres, where the entire care of patients with coagulopathies is to be concentrated.
Moreover, the society should be committed to these patients as well, at least by avoiding discrimination and stigmatization.
Despite the existing problems care for patients with hemophilia improves with every passing year. Optimism becomes even more real with the establishment of a National Hemophilia Council within the framework of AC "Partnership for Health", including medical specialists, members of the Bulgarian Hemophilia Association, representatives of the Ministry of Health and NHIF. The main goal of the National Hemophilia Council is to constantly optimize the access to timely, adequate and effective medical services and therapies for patients with haemophilia in Bulgaria.
What can you recommend for the improvement of the care for haemophilia patients in Bulgaria?
Assoc. Prof. Kaleva: The recommendations that would benefit patients can be summarized in terms of organization, information and funding. It is really important a national programme for the treatment of genetic coagulopathies to be developed as well as our country to be included in the forthcoming programme of PARTNERS European Hemophilia Consortium for patient access to adequate and stable replacement and immune-tolerant therapy. Patients with haemophilia should be able to receive urgent treatment in all the hospitals in the country. Furthermore new centres for complex treatment have to be built. The shortening of the procedure for obtaining clotting factors for home treatment and the possibilities for financing the planned surgery treatment and for adequate physiotherapy and rehabilitation are of essential importance to the improvement of the care for these patients. Last but not least, I will recommend raising the patient awareness of the diseases and controlling home care.