The repeated bleeding in and around the joint cavity associated with haemophilia causes damage to the joints. Known as haemophilic arthropathy, the damage is similar to that of a person with arthritis. Permanent damage can be caused by one serious joint bleed, however, the damage is usually the result of many bleeds into the same joint over a period of years.
Bleeding into the joints causes the synovial membrane surrounding the joint to thicken and become inflamed. As a result, the synovial fluid no longer lubricates cartilage around the joint. This condition, called synovitis, causes problems ranging from pain and loss of motion to crippling arthritis. Joints most commonly affected are knees, ankles and elbows, and most adults with severe haemophilia suffer from arthropathy in one or more joints. The result is a loss of strength in the muscles around the joint, pain in the joint even when at rest and loss of motion. If the damage is in the knee or ankle, the person may be unable to walk without pain, drive a car or may need crutches or a wheelchair to get around.
The only way to prevent joint damage is to prevent bleeds into the joints. Bleeds should be treated immediately with factor concentrates and P.R.I.C.E (Protection, Rest, Ice, Compression, Elevation), thus limiting the amount of blood in the joint. As treatment options progress, and with the availability of prophylaxis therapy, it is hoped that the development of severe joint damage can be prevented in the younger generation.
Synovitis
After repeated bleeding episodes, the synovium may become thickened and inflamed. Normally only a few cell layers thick, the synovium can become thickened and engorged with fluid and iron from the blood; a condition called synovitis. Synovitis can cause pain and inflammation within the affected joint and changes the properties of the synovial fluid. Instead of creating nourishing, lubricating fluid, the synovium can release enzymes that break down the cartilage within the joint, leading to arthritis. Synovitis is one of the earliest complications of haemophilia. It commonly appears as painless, boggy swelling of the affected joint after several bleeds. Synovitis looks and feels different from a single, acute bleed because it tends not to be painful, and does not go away after factor treatment infusion. The origin of haemophilic synovitis is related to chronic accumulation of blood within a joint. Blood is not a normal constituent of synovial fluid. When a joint bleed occurs, the products from the broken-down blood must be removed from the joint by the synovial membrane. Iron, an abundant element of blood, acts as a powerful stimulus to the synovial cells, setting off an inflammatory reaction.
A normal synovial membrane has the ability to absorb the breakdown products of blood after an acute, isolated bleed. One problem is a swollen synovium tends to easily re-bleed and a vicious cycle of bleed-synovitis-bleed can establish. When bleeding occurs repeatedly over time, the synovial membrane becomes chronically inflamed and swollen. A joint that does not return to normal between bleeds has become a target joint and is in a state of chronic synovitis. The joint feels puffy or boggy to the touch and the increased blood flow, a feature of the inflammation, makes the joint warm. If the joint has become permanently stretched from chronic swelling, it may not be painful. While a bleeding joint will quickly lose motion as the blood fills the joint cavity, joints that are swollen from synovitis usually continue to move without much pain. If the process continues for years, the enzymes in the synovial fluid may gradually digest the cartilage and bone of the joint, leading to chronic pain and degenerative changes. In addition to the damage to the joint itself, there is often shrinkage of the soft tissues, tendons and ligaments around the joint so that the person loses some of the range of movement in the joint. Unless the synovitis is minimised or controlled the risk of joint degeneration is very high. Secondary prophylaxis with clotting factor aims to prevent additional damage to a joint that has bled previously and avoid further bleeding. The number of bleeds must be kept to a minimum to prevent the permanent inflammation seen in chronic synovitis. However, once chronic synovitis has developed, the use of prophylactic clotting factor has been shown to only have limited therapeutic benefit. Short-term oral or intraarticular steroids have been shown to have beneficial effects in decreasing the synovial volume. Removal of the synovium, a synovectomy, can be accomplished through surgical and nonsurgical procedures (chemical, radiation). While only undertaken after careful consideration, a synovectomy can successfully deactivate the synovium in transitory and early chronic synovitis. Deactivation stops the cycle of bleeding, reduces the volume of the synovium to normal, and allows the person with haemophilia to pursue physical therapy to recuperate joint range of motion, strength and speed. To prevent the development of synovitis all joint bleeds should be promptly and properly managed, including regular clotting factor replacement, restorative physiotherapy, and close clinical follow-up. The goals of physiotherapy are to break the cycle of bleeding, improve muscle strength, range of motion, and joint position (limb biomechanics). Improved strength and mobility will help reduce the risk of recurrent joint bleeding, and so the redevelopment of target joints and subsequent chronic synovitis.
Arthritis
Arthritis is a term that generally covers all types of joint inflammation and degradation. There are several types of arthritis. Arthritis related to haemophilia is associated with the damage to the cartilage and bones of the joint surfaces from chronic inflammation of the synovial lining. When a lot of blood accumulates inside a joint, the old blood and the synovial fluid begin to eat away at the cartilage. Haemophilic arthropathy refers to permanent joint disease occurring in people with haemophilia as a long-term consequence of this process. Haemophilic arthropathy is the most common cause of morbidity in people with haemophilia and has a great impact on quality of life. It can become evident at an early age and because people with haemophilia now have a normal life expectancy, people can live for many years with this painful condition. This is in contrast to other types of arthritis, such as osteoarthritis and rheumatoid arthritis, which usually start at an older age. Symptoms of advanced haemophilic arthropathy include persistent chronic pain, joint stiffness, decreased range of motion and decreased function. Stiffness and pain usually appear first thing in the morning and after sitting still for a while. The pain can vary depending on the day’s activities and may be accompanied by swelling in the joints. This is different to osteoarthritis, for example, a condition in which the ends of two bones rub together because of a loss of joint space and damage to the cartilage. The best treatments for degenerative forms of inflammatory arthritis are physiotherapy, weight loss and in some cases COX-2 inhibitor non-steroidal anti-inflammatory (NSAIDs) medications. COX-2 inhibitors have anti-inflammatory, anti-angiogenic (prevents the growth of blood vessels) and analgesic (pain killer) properties yet do not affect platelet function in the manner of traditional NSAIDs (aspirin, ibuprofen).
Chronic pain is managed differently from acute pain. In addition to the above, there also are a variety of causes of joint pain from outside the joint that can become painful and might be mistaken for arthritis or conditions that affect bone, nerve or blood vessels that may present as joint pain. This is why it is important to have a proper assessment to clearly diagnose the source of your pain (usually within a few days). The character, location, intensity, frequency and duration of pain and the aggravating and relieving factors must all be considered to guide proper treatment.
Ankle bleeds
An ankle bleed is blood within the joint space of the ankle with any injury to the ankle, which may be very minor. You may even have trouble identifying how you did it. These are associated with the haemophilia population only.
Ankle sprains
Ankle sprains are common in both the general and haemophilia population. They can result in bruising, swelling and damage to the ligaments and joint surfaces. An ankle sprain may result in a joint bleed.
Physiotherapy is usually necessary with these injuries: examination, treatment and recovery are dependent on the type of injury, number of sprains and your bleeding history. In people with haemophilia an ankle sprain must be treated very seriously. If it is not rehabilitated fully it may become more prone to re-injury and become a target joint, where there are repeated bleeds into the ankle, with little provocation or injury.
Initial treatment of a sprain or bleed
Immediate treatment ensures the ankle ligaments and soft tissues heal well and more quickly. It attempts to minimize swelling, reducing the time of exposure of the joint to blood and reduce joint damage.
Initial treatment: P.R.I.C.E. (PROTECTION, REST, ICE, COMPRESSION, ELEVATION)
Factor should be administered as soon as possible and injuries of this nature should be reported to the haemophilia treatment centre.
Rest: Crutches and a splint are necessary for 48 hours for haemophilia patients
Ice: Cold in the form of crushed ice, frozen peas or cold packs should be applied to the ankle and lower calf immediately. To prevent ice burns the chosen products should be wrapped in a damp towel.
Compression: A supportive bandage should be applied from the toes up the leg to just below the knee in addition to using a splint. This should be worn continuously except when in bed at night. Frequently a physiotherapist will make a splint to keep the ankle joint and calf in a good position.
Elevation: The leg should be elevated above the level of the hip when sitting, and above the heart when lying. The knee should be straight not bent when lying; a bent knee leads to a tight calf and longer rehabilitation.
Further treatment
Physiotherapy: Physiotherapy is likely to be recommended depending on the severity of the injury.
Exercises: Exercises may be commenced safely when bleeding has stopped and the ankle is able to move without pain. There should be no increased pain or swelling after exercise.
It is essential that you contact your physiotherapist at your haemophilia treatment centre for assessment and advice after any ankle injury or bleed.