Hemophilia is a genetic disorder of blood clotting. It is sometimes called ‘the royal disease‘ because Great Britain‘s Queen Victoria passed it to various European royal families through her daughters.
People with hemophilia have low levels of clotting factors. Clotting factor is a protein that is needed for the blood to clot and stop bleeding. Consequently, people born with hemophilia tend to bruise easily and bleed longer than those with normal coagulation system. However, the most threatening symptom of hemophilia is internal bleeding (bleeding inside of the body) that can affect joints, muscles, the gastrointestinal tract, the urinary system and, in most serious cases, the brain.
Haemophilia is much more common among men than women because of its specific inheritance pattern (X-linked recessive). An estimated incidence of hemophilia is about 1 in 5,000 male births each year. This disease affects 1 in 12,000 people all over the world.
There are three types of hemophilia. Hemophilia A, also known as classic hemophilia, refers to clotting factor VIII deficiency. Another type is called hemophilia B or factor IX deficiency. This type is also called Christmas disease after Stephen Christmas who was the first patient recorded with this disorder. The third type is called hemophilia C and refers to factor XI deficiency. Hemophilia A is the most common type accounting for 80 percent of all hemophilia cases while hemophilia B is much less common and hemophilia C is extremely rare.
Hemophilia can cause a joint disease called hemophilic arthropathy. It develops as a result of repeated bleeding into joints that may occur after an injury, or spontaneously.
Bleeding into joints, also called hemarthrosis, is a very common form of internal bleeding in people with hemophilia. The main place where bleeding occurs is synovium. Synovium is a thick membrane lining in the inside of the joints. It produces the lubricating liquid that prevents the wear and tear of the joints. However, synovium has a large number of blood vessels which can be injured through joint movements, minimal trauma or even without any injury. If the person has a coagulation disorder, like in hemophilia, bleeding from these blood vessels does not stop and the blood gets into the joint space. This causes inflammation in the joint and results in such symptoms as pain, tingling and swelling. If the bleeding continues or the chronic inflammation repeats, joint cartilage damage and joint surfaces erosions develop. Eventually, these alterations lead to joint stiffness and deformity accompanied by chronic pain. Unfortunately, hemophilic arthropathy is the most frequent complication associated with hemophilia. It predominantly affects knees, elbows and ankles. Damage of the knees causes the most significant disability. Consequently, total knee replacement is the most frequent total joint replacement in people with hemophilia. In addition, many of patients require this surgery at a young age.
Hemophilic arthropathy is a disabling disease associated with reduced mobility and severe pain. As mentioned above, joint replacement, especially total knee replacement, is necessary for many patients with hemophilia at some point in their lives. This surgery greatly relieves symptoms of arthropathy (pain, stiffness, loss of motion and discomfort) and significantly improves the quality of patients‘ lives. However, surgery in patients with hemophilia carries more risks than in other patients. Heavy bleeding and infection are the most serious ones. Thanks to the development of surgical techniques, availability of clotting factor concentrates and improvements in prosthesis design, today total knee replacement is the treatment of choice for patients with hemophilia. In order to decrease surgical risks as much as possible, total knee replacement in hemophilia patients is followed by special precautions. These include antibiotic-loaded cement, high level of replacement clotting factor for 2 weeks before the surgery and the use of general anaesthesia instead of spinal (in order to avoid bleeding into the spinal canal).
Patients with hemophilia are encouraged to lead a healthy lifestyle and physical activity. Exercises help to maintain strong muscles that protect the joints. It is recommended to exercise 30 min at least three times a week regularly.
Exercising is also a part of rehabilitation programme. Rehabilitation plays a very important role not only after the joint replacement surgery, but also before it. It is beneficial in both prevention and the treatment of hemophilic arthropathy. There are special rehabilitation centres that provide patients with adjusted programs before joint replacement surgery and right after it. The goal of preoperative rehabilitation is to train the muscles. Strong muscles are necessary for good joint function and a quicker healing process. Postsurgical rehabilitation is designed to alleviate the pain and swelling and to increase the range motion of the new joint.
The other type of rehabilitation is maintenance rehabilitation. This programme helps to strengthen the muscles preventing the joint from deformations. It also relieves the pain and helps to save the function of the joint as long as possible.
The other disorder of coagulation system that may result in arthropathy is called von Willebrand disease (VWD). It affects approximately 1% of the human population and is defined as extended or excessive bleeding due to deficiency of blood clotting protein called von Willebrand factor. The symptoms of VWD are similar to those of hemophilia (prolonged bleeding, easy bruising, heavy menstrual bleeding and others). Joint damage occurs in approximately 2-30% of people with VWD and is more common in severe forms of this disorder.