Hemophilia and Joint Health
By: Doris Quon, M.D., Ph.D., Medical Director - Orthopaedic Hemophilia Treatment Center  |  May, 2016   | Download Article |

Hemophilia is a sex linked congenital bleeding disorder due to a deficiency in either coagulation factor VIII (hemophilia A) or factor IX (hemophilia B). While patients with hemophilia may have any type of bleeding episodes, the hallmark of hemophilia is hemarthrosis or bleeding into the joints, with typically 70-80% of bleeding episodes being hemarthrosis. The most common bleeding sites are the hinged joints - the knees, ankles or elbows - and less commonly the multi-axial joints such as the shoulders, hips and wrist. Of these joints, the knee is the most commonly affected, accounting for approximately 45% of the bleeds into a joint according the World Federation of Hemophilia. Those with severe disease (defined as <1% factor level) are at highest risk for developing these hemorrhagic events and subsequent musculoskeletal and joint problems, although those with moderate (1-5% factor level) or mild disease (>5-40% factor level) may develop problems if the bleeding episodes are not treated.

Recurrent bleeding over time into the joint causes changes in the synovium as well as the cartilage, a process known as hemophiliac arthropathy. Although the exact mechanism of blood induced joint damage is not known, it appears to have similarities to osteoarthritis and rheumatoid arthritis and involves inflammatory factors. With blood in the joint space, the synovium becomes inflamed, developing a condition called synovitis. With more bleeding, the synovial membranes become thickened and hypertrophic, become more prone to injury, leading to further bleeding, chronic synovitis and a vicious cycle with more bleeding. This results in progressive damage to cartilage and bone erosion that ultimately leads to loss of motion, functional impairment and pain.

Prompt treatment of the bleeding with replacement of the missing clotting factor reduces the risk of chronic joint disease. The optimal management of those with severe hemophilia patients is prophylaxis, which is regular infusions of clotting factor, with the aim of preventing or reducing the frequency of bleeding episodes. Studies have shown the long term benefits of prophylaxis in preventing joint damage with improvements in the quality of life.

Prophylaxis is the best way for those with severe disease to prevent joint problems. In addition, there are a number of things that you can actively do to prevent joint damage and to keep your joints healthy.

• One of the best rules to prevent stiff joints is to keep the joints moving. The more you move, the less stiffness you'll have.
• Maintain a healthy weight: Weight can affect the strain on the joints. Even a little weight loss can help. Every pound lost can take 4 pounds of pressure off of the knees.
• Stretching and having flexibility can keep joints healthy. Try to stretch daily or at least three times a week.
• Choose activities that don't pound your joints like walking, bicycling, swimming, and strength training. And remember to be safe, i.e., if riding a bicycle wear a helmet!
• Muscle matters - well developed muscles provide better protection to give your joints better support. Weight training can help strengthen muscles as well as ligaments that surround the joints, protecting them from damage. Remember: It is normal to have some aching muscles after vigorous exercise, but do not exert yourself so hard as to cause injury. Working through the pain may actually lead to an injury or damage.
• RICE: Rest, Ice, Compression and Elevation - this is recommended if an injury is sustained as an additional therapy to factor replacement.
• Physical therapy - It is important part of the treatment after a bleeding episode to preserve movement, function and range of motion. Physical therapy should be initiated as soon as possible after a bleeding event has resolved.

Sports and exercise are beneficial for patients with hemophilia. Being physically fit with a regular exercise program can decrease the number of spontaneous bleeds. Patients with hemophilia must plan ahead and prior to beginning a program you may need to use the appropriate clotting factor. You should consult your treatment team and the treatment center physical therapist for suggestions. Also remember that one of the best ways to stay healthy overall is to have annual evaluation with the Hemophilia Treatment Center.