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Musculoskeletal Imaging

Haemophilia

a group of disorders with a bleeding diathesis whose underlying anomaly is a blood coagulation defect due to deficiency in a specific clotting factor. Two X-linked recessive forms are associated most commonly with intraosseous and intra-articular bleeding:

  • classic haemophilia (haemophilia A), characterized by a functional deficiency of factor VIII; and

  • Christmas disease (haemophilia B), marked by a functional deficiency of plasma of factor IX.

    Skeletal abnormalities result from haemorrhage into soft tissue, muscle and subperiosteal, intraosseous and intra-articular locations (Fig.1) (Fig.2) (Fig.3) (Fig.4). The intraosseous and intra-articular bleeding may occur either spontaneously or after trauma. Haemarthrosis, which can be divided into acute, subacute and chronic stages, is seen most commonly in the knee, elbow, ankle, hip and glenohumeral joint. In involved joints, typical findings are radiodense effusions, regional or periarticular osteoporosis, subchondral bone erosions and cysts, and joint space narrowing. In children, epiphyseal overgrowth may occur as a result of hyperaemia. In addition, tumour-like lesions may develop after massive subperiosteal, osseous or soft tissue haemorrhage with erosion and distortion of adjacent bone. Compartment syndromes, such as Volkmanns contractures related to massive haemorrhage into the volar muscles of the forearm, may complicate intramuscular bleeding in the upper or lower extremities. Haemorrhage in and around the spinal cord can lead to neurologic abnormalities. Massive subperiosteal and intraosseous bleeding can lead to the formation of large expansile lesions, particularly in the femur and ilium, termed haemophilic pseudotumour (Fig.5). When these pseudotumours involve bone, large defects with geographic bone destruction are seen.

    Radiographically, five stages of severity are seen in haemophilia: soft tissue swelling, osteoporosis, osseous lesions, cartilage destruction, and joint disorganization. However, not all cases follow this sequence. (See bleeding disorder (III:1), Fig. 1, bleeding disorder (III:1), Fig. 2)

    Other abnormalities occurring in haemophilia include osteonecrosis, with epiphyseal fragmentation and collapse; ectopic ossification; and fractures, which may result from the presence of osteoporosis, joint contracture and muscle imbalance in this disease.

    Bone scans are more sensitive than clinical and radiological evaluations in patients with haemophilic arthropathy but lack specificity. CT scanning is of value in assessing the extent of pseudotumours, soft tissue haemorrhage or neurovascular compromise. Spin-echo MR images usually show the joint lesions as regions with low to intermediate signal intensity on T1- and T2-weighted images, with foci of increased signal intensity on T2-weighted images. Haemosiderin deposition can lead to regions of persistent low signal intensity, however. Subchondral cystic lesions and haemophilic pseudotumours may also be evaluated well with MR imaging.

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    Fig.1

    Lateral radiograph of the knee demonstrates joint space narrowing and osteophytosis involving the patellofemoral compartment.
    Haemophilia, Fig.1
    Haemophilia, Fig.2
    Haemophilia, Fig.3
    Haemophilia, Fig.4
    Haemophilia, Fig.5