Treatment of hemophilia. An immediate change is needed

Hemophilia is a hereditary bleeding disorder associated with deficiency or dysfunction of one of the clotting factors responsible for proper blood clotting. In the case of decreased activity of the so-called Factor VIII in plasma, we are talking about haemophilia A, and in the case of factor IX deficiency – haemophilia B. The symptoms of both types of haemophilia are the same – bleeding into muscles and joints (mainly knees, ankles and elbows) leads to irreversible changes in the joints ( haemophilic arthropathy). The key to optimizing the treatment of people with hemophilia? is the availability of the safest recombinant drugs, combined with a range of patient support activities: from home supplies, through education, to electronic treatment monitoring, and the ability to use a multidisciplinary team of professionals.

Modern treatment

– To be able to talk about an innovative treatment of hemophilia, it should be emphasized that it is primarily based on comprehensive patient care. Let us remember that this is a chronic disease that requires multi-directional care. It is worth mentioning here the approved assumptions of the European Parliament from 2009, which, through the document “European Principles of Haemophilia Care”, specified 10 guidelines needed in the proper organization of conditions for patient care. Such care mainly consists in preventing bleeding by administering deficient coagulation factor concentrates, which in turn is also supposed to protect the patient against the most serious complication of haemophilia, i.e. joint damage, called haemophilic atropathy.

Another condition for modern treatment is to ensure proper access to specialists: an orthopedist, physiotherapist, surgeon, hematologist, dentist, but also an infectious disease specialist.

Only such a system of patient care gives enormous chances for a normal life for patients with hemophilia. They then have the opportunity to continue their professional work, pursue their dreams and actively participate in social life. At the same time, this translates into the fact that they pay taxes, run their businesses, travel, play sports – they do not require costly surgical procedures or hospitalization – says Prof. dr hab. n. med. Krystyna Zawilska from the Department and Clinic of Hematology and Cardiovascular Diseases of the Medical University in Poznań.

Individualized therapy

Patients have different bleeding tendencies. Even those who fall into one particular group, such as severe hemophilia, where the clotting factor activity is less than 1%, differ in the number of bleeds per year. As a result, there are discrepancies in the context of their response to the administered concentrate. Pharmacokinetics can be really variable, which is why individualization of treatment is so important.

Access to safe recombinant drugs

As part of the National Program for Treatment of Patients with Hemophilia for 2012-2018, concentrates of clotting factors are purchased each year. However, this program does not specify in which technology these factors are to be produced. It probably happened for financial reasons and that is why in Poland older preparations are most often used, i.e. plasma-derived factors. The improvement in accessibility to newer and safer recombinant factors so far mainly affects children. Meanwhile, long-acting recombinant clotting factors have emerged that may be the next step in development in this field. It is enough to mention that factor IX can be used once every 10 days, and in some patients even once every two weeks. This may improve the quality of life of patients, but unfortunately in Poland, access to such preparations is still limited. It is worth taking a look at Hungary, for example, which offers many more options for treating hemophilia than our system. Last year, the consumption rate of factor VIII per capita was 9,4 units there. The percentage of recombinant factor VIII and factor IX concentrates in Poland is less than 5%, while in most European countries it exceeds 90%. supply of these factors.

Need for quick changes

The biggest problem with the current system of haemophilia treatment in Poland is the lack of comprehensive haemophilia care centers where the patient would be able to consult with specialists experienced in the treatment of coagulation disorders and their complications. We are talking here primarily about contact with an orthopedist, physiotherapist, nurse who have excellent knowledge about the care of patients with hemophilia, but also a psychologist or a social worker. This change is absolutely necessary and recommended by the European Parliament.

Exercise in hemophilia

It is so important that every daily activity significantly affects the patient’s health. Fortunately, modern medicine, in addition to access to a deficient coagulation factor concentrate, also gives us the opportunity to resist the process of joint damage in the course of subsequent strokes. A sick person has a chance to undertake the same physical activity as healthy people. In all this aspect, therefore, the element of secondary prevention is very important, which, unfortunately, is still insufficiently discussed. Since extravasated blood destroys primarily bone and joint structures, it generates the determination of patients to prevent it. Rehabilitation offers patients with tools in the form of exercises that increase overall physical fitness. Thanks to this, the muscles are strengthened and the range of motion in the joints is restored. The patient is more aware of controlling the position of his body, and his stronger joints allow a significant reduction of intra-articular and other haemorrhages.

Rehabilitation as a chance to lead a normal life

– Rehabilitation has no age restrictions or type of hemophilia. Of course, it is individually adjusted to the patient. We select classes taking into account the patient’s situation. This applies to both the treatment or prophylaxis scheme (preventing further changes in the osteoarticular system), preparation for procedures (e.g. endoprosthesis implantation), and further rehabilitation – after arthroplasty procedures. In hemophilia, stillness is the worst, and proper treatment plus rehabilitation is the only chance for a normal life. The enemy of the disease is, among others obesity; it causes additional complications due to the strain on the joints, and the risk of bleeding increases significantly. Of course, in addition to the undeniable facts confirming the need for rehabilitation, physical activity has a positive effect on the secretion of endorphins, and they improve the patient’s well-being and mental condition.

Access to specialized forms of rehabilitation in Poland

As part of the National Program of Treatment of Patients with Hemophilia for 2012-2018, reference centers were to be established, unfortunately they still do not exist. Therefore, we constantly emphasize how important it is for patients to have access to comprehensive care provided by many specialists in one place. Only thanks to the qualified help of an orthopedist, hematologist, surgeon, rheumatologist, dentist, physiotherapist, social psychologist, we can talk about the appropriate standards of modern treatment – says Janusz Zawilski – Physiotherapist from the Interlab Diagnostic and Treatment Center in Poznań.

Patients’ hopes

First of all, the provisions of the National Program of Treatment of Patients with Hemophilia should be fully implemented. It was created by the best Polish experts in the field of bleeding disorders treatment, therefore all assumptions of the Program should be implemented. First of all, however, it is about Hemophilia Treatment Centers, which are to provide comprehensive inpatient and outpatient care. The current financing system does not provide for proper diagnostics and coordinated, multi-specialist care; Therefore, when diagnosing and treating a patient with hemorrhagic diathesis, the clinic or hospital exposes itself to a serious financial burden. Another important issue is the development of rescue procedures for people with hemophilia. The lack of procedures in force at HED and paramedics has often endangered the lives of the sick. We would also like to be able to be treated with modern drugs at the European level.

Comprehensive patient care program

Hemophilia is a disease whose complications require the care of specialists in various fields of medicine. The diverse needs of people with hemophilia and their families are best met through the coordinated care of a multidisciplinary team of professionals. Comprehensive hemophilia treatment centers exist in many European countries. These centers ensure that people with hemophilia have access to a full range of care. In addition to the hematologist, there should be a full rehabilitation base and specialist doctors: orthopedist, hepatologist, dentist, psychologist, gynecologist.

To improve the health and quality of life of people with hemophilia, it is most important to prevent bleeding, to care for damaged joints and muscles, and to treat complications that may be associated with the development of a clotting factor inhibitor.

The situation of patients with hemophilia in Poland

In Poland, there is a lack of adequate comprehensive outpatient care. In the current organizational framework, which is derived from the financing of treatment, an experienced and committed physician, despite efforts, cannot provide adequate care for patients with hemophilia. The problem is serious because hemophilia and related bleeding disorders are little known diseases; GPs are concerned about treating patients with hemophilia and often refer patients to specialist doctors, even in the case of trivial diseases. In this situation, the Hemophilia Treatment Center should provide the necessary treatment or coordination.

The lack of comprehensive care and difficult access to centers that provide comprehensive support to patients cause problems even with listing the requirements for clotting factors. Children treated prophylactically get clotting factors home. It is very important to organize home deliveries also for sick adults who, due to insufficient treatment in recent years, are often disabled. It is difficult for them to reach regional blood donation centers for drugs, emphasizes Bogdan Gajewski – President of the Polish Association of Patients with Hemophilia.