Early prophylaxis tied to less joint damage in severe hemophilia A
Real-world study also highlights role of physical activity
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- Early prophylaxis was linked to substantially lower odds of joint damage in severe hemophilia A.
- Regular physical activity was also associated with reduced odds of hemophilic arthropathy.
- Sedentary lifestyle and recent bleeding were tied to higher odds of joint damage, highlighting gaps in personalized care.
In boys and men with severe hemophilia A, starting prophylaxis — preventive treatment given regularly to reduce bleeding — early and maintaining regular physical activity were each linked to a lower risk of hemophilic arthropathy, a progressive form of joint damage caused by repeated bleeding, according to a real-world study from Colombia.
Most patients in the study received factor VIII (FVIII) replacement therapy as part of their preventive care. Although testing for genetic mutations, assessing joint mobility and function, and surveying patients about their daily well-being are often highlighted in research on hemophilic arthropathy, these practices were not consistently performed among this group of patients.
Gaps in care and access to individualized treatment
“Gaps remain in local care, underscoring the need to adopt guidelines and personalized treatment to improve patient outcomes,” researchers wrote in the study, “Factors contributing to the development of hemophilic arthropathy: A real-world study,” published in the Annals of Hematology.
Hemophilia is a rare bleeding disorder in which the blood does not clot properly, leading to prolonged or excessive bleeding. In hemophilia A, this is caused by mutations in the F8 gene, which provides instructions for making the FVIII clotting protein. Over time, repeated bleeding into joints — such as the knees, ankles, or elbows — can lead to permanent joint damage.
Hemophilic arthropathy is “a major cause of disability and an important healthcare burden worldwide,” the researchers wrote. While prophylaxis can reduce bleeding, “important gaps remain in understanding factors influencing patient outcomes at the local level.” For example, “in Colombia, individualized prophylaxis, while recommended, is not uniformly accessible.”
Researchers analyze factors tied to joint damage
To identify factors linked to hemophilic arthropathy, the researchers reviewed data from 90 boys and men with severe hemophilia A in Colombia. In the previous year, 51.1% had experienced at least one bleeding episode, most of which were traumatic (60.9%). Internal bleeding occurred mostly in the joints, beginning at a median age of 2.5 years. Hemophilic arthropathy was the most common form of joint damage, affecting 65.9% of patients.
Less than one-third of patients (31.1%) had undergone genetic testing, which can identify specific mutations and help guide treatment decisions. Even fewer (less than 20%) received regular blood tests or bone mineral density monitoring. Among patients who underwent imaging, arthropathy was confirmed in 33.3%. Arthropathy is any disease that affects the joints.
Most patients (70%) were physically active, meaning they regularly engaged in movement such as sports or exercise. On average, they were active three times per week. Some (19.1%) participated in high-risk contact sports. On average, patients who were sedentary, meaning they spent most of their time sitting or lying down, were older than those who were active (20.6 vs. 13.7 years).
The majority (90%) received prophylaxis, while the rest were treated only when bleeding occurred (on-demand treatment). Prophylaxis was individualized in about half of patients (50.6%). Although treatment began a median of one month after diagnosis, regular prophylaxis was started much later — at a median of about 9.2 years after diagnosis. Most patients (82.2%) adhered closely to their treatment plans.
Patients who began prophylaxis before joint damage developed (primary prophylaxis) were about 10 times less likely to develop joint damage than those who started later (secondary prophylaxis) or received on-demand treatment. Engaging in physical activity was also associated with 84% lower odds of joint damage.
Higher white blood cell counts, a marker of inflammation, and a sedentary lifestyle were each associated with nearly threefold higher odds of hemophilic arthropathy. Recent bleeding was associated with about 5.3 times higher odds of hemophilic arthropathy, whereas primary prophylaxis was linked to about 93% lower odds compared with secondary prophylaxis.
Younger age and early treatment associated with less joint damage
On average, patients without hemophilic arthropathy were younger and started prophylaxis earlier, findings the researchers said suggest that “early prophylaxis is the key for preventing arthropathy in patients with severe hemophilia A.” These patients also experienced fewer bleeding episodes and visited the emergency room less often.
To better understand whether care followed international guidelines, the researchers interviewed nine pediatric and adult hematologists. Each treated a median of 60 patients with severe hemophilia A in the past year and had about 10 years of clinical experience.
When comparing the hematologists’ responses with patient data, the researchers found good agreement on age, age at first bleed, and annual bleeding rate, but greater differences in estimates of when treatment and prophylaxis were initiated. After adjusting patient data using expert input, the main factors associated with hemophilic arthropathy remained the type of prophylaxis, recent bleeding, and physical activity.
“The experts emphasized the importance of early prophylaxis, individualized treatment, and adherence to care plans for improving joint health outcomes. Addressing these factors and gaps in care is essential for reducing the burden of [hemophilic arthropathy] in patients with severe hemophilia A,” the researchers concluded.
