Prof. Mital: Lack of prophylaxis in patients with hemophilia is associated with absenteeism from work and disability in the early years of life

What is hemophilia and what are its most troublesome symptoms for the patient? What population in Poland is affected by this disease?

Hemophilia is a genetically determined disease related to sex chromosomes. It involves a deficiency of clotting factors. The most common form is hemophilia A, or factor VIII deficiency. The second most common is hemophilia B, or factor IX deficiency. Hemophilia is mainly contracted by men, while women are carriers. As for the Polish population, more than 2,500 people suffer from hemophilia.

The patient who is not covered by prophylaxis suffers most from delivery strokes that deform the joints, that is, those that lead to so-called arthropathy. The population of patients who have not received prophylaxis, unfortunately, these joints are very damaged, and require surgery. Such a first symptom in congenital hemophilia is delivery strokes, but of course strokes can happen anywhere. The worst case scenario is a stroke to the central nervous system.

What is the importance of using early prophylaxis in children with hemophilia and from the first months of life?

It has a very big impact. This image of the hemophilia patient, after the introduction of prophylaxis, has changed. When I started my work, there was no such possibility. Patients only had treatment on demand, that is, when there was a stroke, which did not prevent arthropathy. In children, on the other hand, it is if you start prophylaxis early that we prevent strokes. Patients who come to me now as 18-year-olds, because I am a hematologist of adult patients, are already practically healthy boys, men thanks to this prophylaxis.

More and more is being said about the quality of life of patients. And not only in the case of hemophilia. According to the latest guidelines of the World Federation of Hemophilia, the goal of prevention should be for patients with the disease to achieve a level and quality of life that is as close as possible to that of healthy patients. Do we treat according to this principle in Poland?

In general, yes. Now there is a lot of talk about the so-called personalization of prophylaxis, and until a few years ago in hemophilia we had rigid doses. Such prophylaxis in hemophilia A, if the patient did not have an inhibitor, consisted of intravenous factor VIII concentrate three times a week, and in hemophilia B, factor IX twice a week. Whereas now there is even an app that evaluates the pharmacokinetics, that is, the behavior of clotting factor activity in the blood, and it is selected for the individual patient. We also pay attention to what kind of activity this patient has, whether he does sports, if so - what kind, or whether he rather leads a sedentary lifestyle. We match the prophylaxis to the patient.

W Medexpress.co.uk we recently interviewed a patient who received treatment with a cutting-edge drug as part of a clinical trial. He told us how his life changed 180 degrees because of it. Before, he often had to miss work. Now he can drive a car and is not afraid to leave the house. What is the significance of this?

It matters very much, because for elderly patients who did not have this prophylaxis, it was associated with absenteeism from work and disability in early life. Also with high absenteeism at school and exclusion, changes of a psychological nature. Now, thanks to this prophylaxis, clotting factors (and now the possibility has arisen for some patients, especially those who have antibodies to these clotting factors), the administration of a subcutaneous drug once every two weeks, the patients' quality of life is changing. These patients now feel safe and don't have to prick themselves intravenously. This new generation of subcutaneous drugs is also a very big breakthrough in hemophilia therapy.

That is, patients can actually live normal lives, start families and work. From your point of view as a clinician, is it important that the use of such new therapies can have an impact on reducing the cost of lost productivity in patients due to disease?

Of course they did. Because in patients who were affected by this disease in the early years and had to go on disability, productivity or participation in society was nonexistent. Whereas now these patients will do the work like any other healthy person. So you have to count these costs globally, not only how much a unit or a milligram of a particular drug costs, but most importantly, what condition such a patient is in; and that he can work, has a sense of health, that is, in addition to this physical health, he has mental well-being. In my opinion, this is very worthwhile. I think that it is much more costly to treat the complications of hemophilia, i.e. surgery, but also absenteeism from work (which also costs money) than to offer prophylaxis. Only you have to simply calculate these costs - what pays off more.

Do we have access to all the most modern forms of therapy in Poland?

In general, I will say that it has improved a lot, because some time ago, it was even plasma factors that were in short supply and we could not carry out prophylaxis. Now we have access to plasma-based, recombinant ones for children. Adults are treated with plasma-based preparations, which doesn't mean inferior. On the other hand, as for the new therapies we mentioned, they are subcutaneous therapies, and they apply to selected groups of patients for now. Here, it's mainly about hemophilia type A and the drug emicizumab, which is used in adults who have antibodies to factor VIII. And this is under the National Program for the Treatment of Hemophilia and Related Hemorrhagic Disorders. Whereas, so far, in a small group of patients who have participated in clinical trials (in patients without the inhibitor), we can use this drug. And we have such patients. In our center as far as adults are concerned, there are two patients after the clinical trial and one patient where the board decided that such a drug can be used in patients without the inhibitor. The dream would be that as many patients as possible are covered by this convenient and effective treatment.

What changes do clinicians expect, both in terms of access to therapy, but also in terms of systemic, organizational changes?

I think the system generally works well. There are established hemophilia treatment centers. There is also good cooperation with the National Blood Center, which oversees the whole process and oversees the National Hemophilia Treatment Program. What I would expect, however, is greater accessibility to these state-of-the-art therapies, to subcutaneous therapies (it won't just be emicizumab, which I mentioned, because other drugs are being prepared) and that this group of patients will be broadened. There are plans to introduce emicizumab in adults. In certain groups of patients, for example, where we have difficulty administering the drug because there are no good veins, that is, there is so-called difficult vascular access, or in patients with mental illness who have a fear of needles. These will be certain groups of patients, not all of them, because we also have to count finances, though. I think that in the near future not all patients will be covered by this state-of-the-art therapy.

May we only count these finances in favor of patients. Thank you for the interview.