Hematological Disorders

Hemophilia

Hemophilia is a bleeding disorder that affects about 18,000 Americans; each year, about 400 babies are born with the disease, and it occurs in 1 out of every 7,500 males.

In hemophilia, bleeding occurs without any recog­nizable trauma; spontaneous bleeding happens most often in the knees, ankles, elbows, and shoulders. Bleeding into the joints usually begins after a child begins to walk. As bleeding begins, the child may expe­rience warmth or tingling in the joint. As bleeding pro­gresses, there is usually a feeling of stiffness, fullness, and pain. The joint swells and may be warm and tender, causing synovial membrane thickening. Without treat­ment, hypertrophy of the synovium with its increased vascular supply, creates a cycle of more bleeding and destruction. Without intervention, fibrosis and arthritis sets in, making joint replacement at an early age the only option. Pain and swelling can also lead to decreased active joint ROM, further leading to contractures. Other complications include muscle atrophy, osteopenia, peripheral neuropathy, and compartment syndrome.

The main treatment for hemophilia is injections of cryoprecipitate. Acute hemarthrosis requires joint immobilization for 48 hours to prevent further bleeding. Once pain and swelling subsides, passive ROM should be started to prevent fibrosis and contracture develop­ment. Analgesics, anti-inflammatory medications, and aspiration of blood from the joint if overlying skin is tense are important in pain management. Joint func­tion may be regained in 12-24 hours with early factor replacement, but may take up to two weeks for more blood reabsorption (119). ROM exercises can be done in the water to reduce stress on the joint while providing resistance; strengthening of specific muscle groups to maximize joint stability should be prescribed.

Sickle Cell Disease

Joint involvement occurs in infancy in sickle cell dis­ease. Bones and joints are often the site of vaso-occlusive episodes, and chronic infarcts may result. One of the earliest manifestations of sickling in young children is dactylitis, or “hand-foot syndrome.” An episode of painful swelling of the bones of the hand or foot may predict severe disease (120). Abnormalities of the ver­tebrae (“fish mouthing”) are characteristic of sickle cell disease. Hyperplasia of the bone marrow may cause growth disturbances and osteopenia. Osteomyelitis is also more common and may be difficult to distin­guish from infarction; radionucleotide imaging and bone aspiration are often necessary to diagnose bone infection. Multiple joints can be involved in septic arthritis caused by S. aureus, E. coli, Enterobacter, and Salmonella. More often, noninflammatory joint effu­sions of the knee, ankle, or elbow occur during crises. Chronic synovitis in wrists, metacarpal heads, and calcanei with resultant erosive joint destruction has been reported in children with sickle cell disease.

Avascular necrosis of the femur and, less often, the humeral head and temporomandibular joint can occur in sickle cell anemia (121,122). Avascular necro­sis of the weight bearing joints (hip and shoulders) causes chronic pain and may require surgical inter­vention. Plain x-ray films may not detect early disease, and magnetic resonance imaging may be necessary. Early disease may improve with coring and osteotomy

(123). Late disease requires joint replacement. Patients with sickle cell disease have an increased incidence of infection and failure of prosthesis.

Ischemic stroke is one of the most devastating problems in children. The optimal setting for the care of patients with sickle cell disease is a comprehensive center, with a multidisciplinary team to provide ongo­ing support.

Summary

The management of children and adolescents with chronic rheumatic disease is broad and multidisciplin­ary (110). Pediatric physiatrists can help provide sup­portive treatment to children with rheumatic disease by prescribing appropriate pain medications, exercise, bracing, and equipment to maintain or restore age-ap­propriate function and development. Such treatment can help prevent deformity and contractures; promote normal growth; and maximize physical, psychosocial, and cognitive development in children with rheumatic disease.