What is life like today for people with hemophilia - can they study, work, have a family, and play sports normally? Interview with prof. Jerzy Windyga from the Institute of Hematology and Transfusion Medicine in Warsaw.

- We associate haemophilia with transfusions, disability, the necessity to give up work and family plans. Meanwhile, patients' lives look completely different …

- Definitely yes. Hemophilia is undoubtedly an example of a tremendous medical advance in the treatment of congenital diseases. Diseases that once led to premature death in the absence of proper treatment. Severe hemophilia most often killed people around the second, third, and at the latest fourth decade of life. Because the patients in situations of trauma, the necessity to undergo some surgery, did not survive, because there was no proper treatment that would stop excessive bleeding.

- When did patients stop dying of hemophilia?

- In the mid-20th century, some therapeutic options began to emerge - initially a whole blood transfusion, then a fresh frozen plasma transfusion - this is a product made from human blood. Later (in the 1960s and 1970s) began to isolate clotting factors, i.e. from human blood plasma, thanks to the progress of technology, it was possible to isolate, among others, coagulation factor VIII and coagulation factor IX. These are factors that people with haemophilia A (factor VIII) and haemophilia B (factor IX) lack. And then, instead of transfusing blood or plasma, it was enough to give a concentrate of this protein. Instead of 2-4 liters - 10 milliliters, and the achieved effect was the same. This has been the progress in the treatment of hemophilia. However, these concentrates were available only in the richest countries - the United States and Western European countries, because their production was very expensive. In Poland, blood and plasma were processed all the time.

- Then prophylaxis became the standard of treatment for hemophilia …

- Yes. The development of clotting factor concentrates has led to a change in the treatment strategy of haemophilia. Before the concentrates were made, a person with hemophilia was treated in the hospital after the bleeding started. A concentrate is a powder medicine that is dissolved and given as an injection into a vein. The powder was given home to patients because it could be kept at temperature+ 2 + 8 oC, so in an ordinary refrigerator. They could take it as soon as there was bleeding without hospital treatment. And then there was a revolution in treatment - instead of administering the concentrate, when the bleeding had already occurred, it was decided to administer it regularly, at such intervals and in such a dose that the patient had a constant clotting factor in his bloodstream, which protected him from bleeding. Characteristic of haemophilia are spontaneous bleeding, i.e. without trauma, most often into the joints. If the patient took the drug two or three times a week, he would have less bleeding. This standard of treatment was called long-term prophylaxis. It was popularized in the 1970s in richer Western countries. Later this treatment was refined. And then this (factor VIII and factor IX) protein (like most proteins in our body) was cloned, and in the late 1980s, they started producing clotting factors by genetic engineering. These were the so-called recombinant proteins.

- And the next step in the development of treatment?

- These were proteins with prolonged action - production in breeding cells, i.e. through genetic engineering, makes it possible to modify the protein. For example, in haemophilia B, it has been possible to produce a factor that has a duration of action several times longer than that circulating in human blood. And once the action of the protein was extended, the frequency of administration of the preparation could be reduced. For haemophilia B, the treatment may be given once a week, once every 10 days, and sometimes every two weeks. In haemophilia A, prolonging the action of a clotting factor is much more difficult for a variety of reasons. Here, the injections can also be given less frequently, but still more or less twice a week. The breakthrough in the treatment of haemophilia A were monoclonal antibodies. This is a completely new approach to treating people with hemophilia. Monoclonal antibodies, produced by genetic engineering, replace factor VIII. So a completely different protein structure works like factor VIII. It has a long duration of action and can be administered subcutaneously. So we are switching from intravenous to subcutaneous administration. The vast majority of patients treated in this way do not have any spontaneous bleeding at all.

- What is life like today for people with hemophilia? Can they normally study, work, have a family, play sports?

- Yes! Thanks to this advancement in treatment, access to clotting factors, the fate of these patients is completely different. It is worth mentioning that these spontaneous bleeding begins at the turn of the first and second year of life, which is very early. And with proper treatment, we can preventbleeding. These young boys develop normally - they do not have spontaneous bleeding, they have no musculoskeletal disability, and they do not die during surgery. So they can study, work and start a family as usual. The disease, however, does not disappear and is associated with certain limitations, for example when practicing certain sports, e.g. martial arts are not allowed. You have to be careful of serious injuries, it can be dangerous. Drugs cannot completely reverse the disease.

- However, in Poland, slightly older patients with hemophilia have had painful bleeding to joints and muscles, have problems with moving, sometimes use wheelchairs …

- The treatment program that we can start with the youngest children and continue to apply was launched in 2008, that is only 13 years ago. Before that, the supply of clotting factor concentrates was very unsatisfactory. Patients who did not receive prophylaxis had bleeding into the joints. These bleedings were treated, but the consequences were life-long as the joints were damaged (haemophilic arthropathy). The degree of destruction varies. These patients in their 50s or 60s often have gruesome joints. They move on wheelchairs and walk on crutches. Of course, modern medicine also offers some solutions, such as the implantation of knee or hip endoprostheses. It gives a chance for more activity, for a better life, but of course it is a complicated procedure and the endoprosthesis will not last for a lifetime.

- How to apply long-term prophylaxis to very young children?

- It is difficult to imagine in such children, sometimes already one year old, intravenous infusions two or three times a week … vascular ports. There is a chamber with a membrane under the skin of this baby. The parent breaks through the skin and makes an injection. In this way, it protects the child in the first years of life. Perhaps soon in these smallest patients we will be able to use drugs in the form of subcutaneous injections instead of intravenous infusions. Let it happen.

Category:

Cardiology