Kathmandu

Haemophilia is the oldest known bleeding disorder and is a disease almost exclusively of males because the defective gene is found on X chromosome. The deficiency or absence of either of two clotting elements — factor VIII or factor IX — leads to the clinical condition described as haemophilia A or haemophilia B.

For many people with bleeding disorders, pain is a part of daily life. There is the familiar discomfort and stiffness of a bleed, sharp throbs of arthritic joints, and

ordinary aches and pains that affect everybody.

The most common place for a person with haemophilia to bleed is the space inside his joints. Bleeding into joints or muscles causes the most long-lasting problems.

Certain kinds of joints are called synovial joints. A synovial joint is one that has a clear fluid inside it, called synovial fluid. This fluid makes the ends of the bones slide over each other smoothly. By keeping the bone ends from rubbing against each other, the synovial fluid protects the bones from wear and tear.

Blood flowing into the space in the synovial joint causes damage to the joint. If this happens often enough, it causes crippling arthritis. The person will not be able to use the joint without experiencing a lot of pain.

In 1868, physician Volkmann defined the role of bleeding as the cause of joint damage in haemophilia. People with one of these bleeding disorders are prone to have repeated episodes of bleeding into the joints. Acute bleeding increases the pressure in the synovial cavity and bone marrow, which possibly leads to damage of cartilage and bone or a tumour-like mass. Repeated bleeding in the joint in the growing child causes juxta-articular osteoporosis and overgrowth of the epiphysis causing deformity of his extremities.

The knee is the classic target joint. Involvement of this joint is most common.

Haematologic prophylactic treatment of people from ages two to 18 years could avoid the development of haemophilic joint damage (arthropathy) if the concentration of the patient’s deficient factor is prevented from falling below one per cent of normal. Haemarthroses can be prevented by the administration of clotting factor concentrates (prophylaxis). However, high costs and the need for venous access devices in younger children continue to complicate recommendations for universal prophylaxis.

Prevention of joint damage needs to focus on prevention of haemarthroses through prophylaxis, identifying early joint disease through the optimal use of cost-effective imaging modalities and the validation of serological markers of joint arthropathy.

Screening for effects on bone health and optimal management of pain to improve quality of life are, likewise, important issues. Major haemarthrosis and chronic haemophilic synovitis should be treated aggressively to prevent haemophilic damage to joints.

It has been shown that patients with severe haemophilia treated on demand are not as physically active as their healthy peers and often have a sedentary lifestyle that contributes to chronic joint disease. The use of prophylaxis provides opportunities for participation in physical activities with fewer bleeding episodes.

Patients with severe haemophilia A and factor VIII inhibitors are at increased risk of serious bleeding complications and progression to end-stage joint disease. Effective strategies to prevent bleeding in such patients have not yet been established.

Although the RICE method is a mainstay for treating injuries, data from the National Pain Study pilot project (USA) shows that it is underused by people with bleeding disorders.

The use of aspirin, ibuprofen, naproxen and other NSAIDs are harmful for people with bleeding disorders because they can interfere with blood clotting. The pain study revealed that many people with bleeding disorders are using prescription NSAIDs despite the risk.

Experts suggest that chronic pain is common among people with bleeding disorders. It often has a significant emotional component, resulting in stress, depression, anxiety and anger. People with haemophilia, who suffer from long term pain, should discuss their options with their doctor.

Many people with chronic pain tend to limit their activities to avoid discomfort, which can be counterproductive in the long run and may cause more damage.

In pain? Try RICE

People with bleeding disorders who are experiencing acute, short-term pain should consider the RICE method of treatment:

Rest: Stop using the injured body part. Continued activity may result in further injury, more discomfort, and perhaps bleeding into tissues or a joint space. Rest the injured area for 24 to 48 hours. Resume activity gradually to prevent hurting or re-injuring the area. A sling may be needed to rest the upper extremity, while a cane or crutches can help avoid bearing weight on an affected lower extremity.

Ice: Applications of ice reduce pain and help to constrict blood vessels and limit bleeding. Apply ice to the affected area for 20 minutes at a time for 48 to 72 hours. Don’t place ice directly on the skin; put the ice in a plastic bag and wrap it in a towel or cloth.

Compression: Wrapping the affected area with an elastic bandage will help reduce swelling and limit bleeding. The bandage should be snug, but should not cut off circulation.

Elevation: Keep a painful extremity elevated as much as possible. This helps reduce swelling.

People with haemophilia can avoid this painful cycle by —

• Learning to tell the first signs of a joint bleed
• Taking factor right away, before the joint fills with blood
• Exercising to make the muscles that protect their joints stronger. A physical therapist can help plan an exercise programme
• Research suggests that any bleeding into a joint causes damage. For this reason, it is recommended that children with severe haemophilia be given prophylactic treatment.  This means they take factor several times a week to keep the level of factor in their blood high enough to prevent most bleeding

 (The author is Consultant Joint Replacement Surgeon at Grande International Hospital, and is working in prevention and treatment of haemophilic issues related to bones and joints. He is a member of Medical Committee, Nepal Hemophilia Society (NHS). He can be reached at bhpant @gmail.com