Prevention of the musculoskeletal complications of hemophilia

Abstract

Hemophilia is an inherited disorder of clotting factor deficiencies resulting in musculoskeletal bleeding, including hemarthroses, leading to musculoskeletal complications. The articular problems of hemophiliac patients begin in infancy. These include: recurrent hemarthroses, chronic synovitis, flexion deformities, hypertrophy of the growth epiphyses, damage to the articular cartilage, and hemophilic arthropathy. The most commonly affected joints are the ankle, the knee, and the elbow. Hematologic prophylactic treatment from ages 2 to 18 years could avoid the development of hemophilic arthropathy if the concentration of the patient's deficient factor is prevented from falling below 1% of normal. Hemarthroses 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 arthropathy needs to focus on prevention of hemarthroses 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 hemarthrosis and chronic hemophilic synovitis should be treated aggressively to prevent hemophilic arthropathy.

Figure 1

MRI of the knee joint of a 27-year-old haemophiliac. In the AP view (a) intra-articular blood can be noted in the lateral side of the joint (black arrow), while in the medial side a severe degree of synovitis can be seen (white arrow). In the lateral view of the MRI (b), the aforementioned hemarthrosis can also be noted (black arrow).

Figure 2

Hemophilic arthropathy of the elbow. At the age of 29 a severe degree of arthropathy was already seen in the AP radiograph (a) and in the lateral view (b). Forty years later the joint was fully destroyed both in the AP view (c) as in the lateral radiograph (d).

Figure 3

Hemophilic arthropathy of the ankle (black arrow) in the AP (a) and lateral (white arrow) radiographs (b).

Figure 4

Severe arthropathy of the knee joint (a) that required a total knee arthroplasty (b), with a satisfactory result.

Figure 5

Subperiosteal hematoma (black arrow) of the thigh in a 27-year-old person with hemophilia.