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Hemophilia is a rare, genetic blood disorder in which the blood does not clot normally. It can be mild, moderate, or severe, depending on how much clotting factor is in a patient’s blood. The majority of people living with hemophilia have the severe form of the disorder.
The annual incidence of hemophilia type A, the most common form of the disease, is approximately 1 case per 5000 male births in Europe and North America. It is the most common X-linked genetic disease (manifesting only in boys). The incidence of hemophilia type B is estimated to be approximately 1 case per 30,000 male births.
Hemophia, February 2013, http://emedicine.medscape.com/article/779322-overview
A common, clinical complication of hemophilia, hemophilic synovitis, occurs as a result of repeated joint bleeds known as hemarthroses. With synovitis, the synovial membrane which lines the joint capsule in the knee, ankle, wrist, elbow, hand, foot and shoulder becomes inflamed and can lead to chronic swelling and, if left untreated, joint deformity.
Current Treatments and Issues
There are several invasive treatments for syovitis; more conservative treatments, which are usually the first course, include:
- Replacing the missing clotting factor for 3-6 months
- Intermittent steroid treatment
- Physical therapy
If a conservative approach is not effective, synovectomy or joint replacement may be recommended.
- Synovectomy, or the removal of the synovium, aims to reduce the number of bleeding episodes and break the cycle of hemorrhage and joint damage. After removal, the synovium grows back, but it is no longer thick and engorged with blood vessels, as it was before.
There are three techniques that can be used to remove the swollen synovial:
- Radioactive synovectomy
Radioactive material is injected into the target joint; the radioactivity reduces the swollenness. Theoretically there is an increased risk of developing cancer but as such, there hasn’t been a strong connection from this treatment to cancer.
- Arthroscopic synovectomy
Small incisions are made and a tiny camera is inserted into a joint to guide the removal of the synovium through the other incisions. This is usually done under general anesthetic and can be used for ankles, knees and elbows.
- Open synovectomy
Under a general anesthetic, the joint is opened surgically and the synovium removed.
- Radioactive synovectomy
These procedures can help reduce pain, make the joint more functional and reduce the number of bleeds, slowing or stopping the joint’s degeneration. However, any loss in a patient’s range of motion cannot be regained and in some cases the procedure may further decrease range of motion. While helpful, these procedures can not make a joint like new.
- Joint replacement. If a patient suffers from decreased range of motion and severe pain that inhibits daily activities, joint replacement may be an option. Knee and hip replacements are the most common, but due to their complexity, elbow, shoulder and ankle replacements are less common.
Patients can usually walk and begin participating in physical therapy within two days. Most are discharged from the hospital within two weeks. After the patient has fully healed, they are usually left with a pain-free joint and increased range of motion.