Kolbie Clarke, 17, has mild hemophilia A and low von Willebrand factor, and when she started having joint issues playing soccer five years ago, she wasn’t surprised. Her father and uncle have severe hemophilia, and Kolbie saw them deal with repeated knee and ankle bleeds.
Until recently, the medical community wouldn’t have expected joint issues like Kolbie’s. Now, that is changing.
A leading researcher in this area is Robert Sidonio Jr., MD, director of hemostasis and thrombosis clinical operations at the Aflac Cancer and Blood Disorders Center of Children’s Healthcare of Atlanta. Sidonio attended patient advocacy group meetings where carriers shared stories of joint bleeding. “It really hadn’t been known that the carriers would be at any significant risk for joint bleeds,” he says.
Since then, his research has uncovered evidence that indicates prior joint bleeding in hemophilia carriers, particularly those with levels less than 60%.
For women with bleeding disorders, seeking care from a hemophilia treatment center (HTC) is the first step to progress.
Data collected by HTCs populates the registries of groups such as the Centers for Disease Control and Prevention and the American Thrombosis and Hemostasis Network. “If you don’t become an active part of those datasets, then it’s really hard for us to do any research,” Sidonio notes.
He urges all carriers, even those without a confirmed bleeding disorder diagnosis, to consider being evaluated at an HTC. It’s possible that many carriers have mild hemophilia based on their clotting factor levels.
How to Recognize Joint Issues
Joint bleeds are most likely in the knees and ankles in males and females with hemophilia, Sidonio says, and sometimes in the elbows. “It typically starts off as a tingling, pins-and-needles sensation,” he explains. “Then it progresses to warmth.”
The joint may also look different, as swelling obscures typical contours of bones. Often the range of motion will decrease, and there will be pain.
To help tell the difference between a strain or sprain and a joint bleed, Sidonio encourages people to take pictures and talk about joint issues with their physicians, who may suggest an X-ray or a point-of-care musculoskeletal ultrasound. These tests can reveal a lot, especially if done within 12 to 24 hours of the injury, he says.
What You Can Do
Sidonio recommends you document joint issues with a bleeding diary to record details such as the date, the duration and what makes it feel better. You can keep track on paper, download a bleeding app or use your phone’s notes feature, as Kolbie Clarke does.
If you have lingering joint injuries, your HTC can help. Most have a dedicated physical therapist, and some have an orthopedic surgeon who visits throughout the year. You can also request that your joint range of motion be followed.
Information like this helps the medical community further its knowledge of women and joint issues. Sidonio says, “That’s what really makes a difference.”
Women with bleeding disorders are also encouraged to join the National Hemophilia Foundation’s registry, Community Voices in Research (CVR). CVR connects the experiences of people with bleeding disorders to researchers investigating improving treatments and care.