According to the Orphanet definition , hemophilia is a rare hematological disease characterized by spontaneous hemorrhage or prolonged bleeding due to a deficiency of factor VIII or IX.
On the occasion of the celebration of World Hemophilia Day tomorrow, April 17, we spoke with Daniel-Aníbal García, president of the Spanish Federation of Hemophilia(FEDHEMO) and patient of this same pathology, to discuss the present and future of this disease, its current situation in Spain and the needs -covered and uncovered- of patients.
Daniel begins by explaining that hemophilia is one of the most common coagulopathies, although not the most common. This disease presents mainly as a deficit of clotting factors 8 or 9, giving rise to two types of this same disease: hemophilia A and B, respectively. What distinguishes hemophilia from other blood disorders is its X-linked inheritance, which makes men much more susceptible to it. "In Spain, if I am not mistaken, there are about 3,050 men with hemophilia and not even 30 women," Daniel explains.
Symptomatology
The symptoms and affectations of hemophilia, Daniel explains, go beyond 'mere bleeds'. While spontaneous hemorrhages are the most obvious manifestation, recurrent bleeds can cause great impact at the joint and muscle level on the patient. "The sequelae are much more serious than they may initially appear, especially in the long term," explains Daniel. In some cases, the hemorrhages can affect organs involved in the nervous system or the digestive tract, so the long-term consequences include joint damage that requires constant monitoring by a professional.
Evolution of treatments and bleeding prevention
In terms of treatments, Daniel highlights the paradigm shift in the management of hemophilia. "Historically, it was treated on demand, that is, the clotting factor was administered when a patient was already bleeding. But for some time now, a new method has been implemented: prophylactic treatment, which seeks to prevent bleeding from occurring, not to cure it," he explains.
This change has been key to improving patients' quality of life, as the prevention of bleeding avoids much of the joint and muscle damage previously suffered. "Current treatments allow less frequent administrations, which makes daily life easier for people with hemophilia by making them much less dependent on these administrations," he adds.
Daniel also talks about the importance of the most recent advances in gene therapy and mimetic factors. "We are at a time when, with all the treatments out there, normalization of hemostasis does not seem so far away and this is very good news," he says. This would mean that, with the right treatments, patients could have near-normal coagulation for long periods of time, significantly improving their quality of life.
The challenge of hemophilia in women
Although hemophilia mainly affects men, Daniel also highlights that female carriers of hemophilia can face difficulties when it comes to being diagnosed, due to the lower expression of symptoms. "Female carriers sometimes feel that their symptoms are minimized. This is partly because their manifestations are less obvious and they may be misdiagnosed with other conditions, such as anemia," she explains. Despite the low prevalence of women with hemophilia, Daniel stresses that hemophilia in women "is a reality that exists, and should be recognized."
This invisibility of symptoms in women has been one of the areas in which the Federation has worked most recently, with the aim of improving the diagnosis, treatment and visibility of the disease in the case of women. In this regard, Daniel comments that last year, they presented a paper at the 2024 European Hemophilia Congress on the clinical and social needs of women with hemophilia. "Women with hemophilia often feel undervalued in terms of the impact the disease has on their lives, being the gender with the lowest incidence. This is something we have taken into account and are working to make visible," she adds.
A promising future for hemophilia
When asked about the future of this disease and its treatment, Daniel is optimistic about the advances being made. "Today, hemophilia is being managed in a much more advanced way than previously. Ten years ago, we couldn't even imagine in our best dreams the clinical picture we have right now. The available treatments allow patients to live with far fewer limitations," he says. In addition, it is expected that in the coming years patients will be able to benefit even more from gene therapy and other innovative treatments that could transform the way hemophilia is approached and treated.
The future is promising, and with advances in treatments, the quality of life of hemophilia patients could improve significantly. "The goal is for the person with hemophilia to be able to live a full life, without the limitations that the disease imposes. What we call 'free mind' hemophilia," concludes Daniel.
This concept refers to 'forgetting' about the disease and to patients being able to lead a life 'outside' hemophilia, without worrying about the symptoms and their involvement.
However, there is still work to be done, especially with regard to less prevalent coagulopathies and the treatment of female carriers. Thanks to research, hemophilia patients can look forward to a future with fewer limitations, and, perhaps, before long, the long-awaited "hemophilia free mind" will be an attainable reality for many.
