SPR Unknown case #44: FINAL

Marina Doliner, M.D.

St Francis Hospital

mdoliner@comcast.net

Ellen Benya, M.D.

Children's Memorial Hospital Chicago

Keywords

1675 hemophiliac arthropathy spr unknown case 44


Publication Date: 2010-12-08

History

15 year old male with intermittent nontraumatic left elbow and left ankle pain. Also has episodes of spontaneous non-painful nontraumatic toe joint swelling.

Findings

Left ankle radiographs: cortical incongruence represents erosion in the superior medial aspect of the talar dome.

MRI left ankle: Focal subchondral cysts in the left tibial epiphysis are associated with focal areas of edema in the distal tibial epiphysis and metaphysis. Erosions of the articular surfaces of the distal tibia and the talar dome. Thinning of the articular cartilage of the tibio-talar joint. Small amount of tibio-talar joint fluid, as well as in some other tarsal joints. Thickening with decreased signal in the synovium of the tibio-talar joint, likely related to hemosiderin deposition and nodular synovial hypertrophy.

Diagnosis

Hemophilic arthropathy

DDx

DDx:

• Juvenile Idiopathic Arthritis

• Hemophilic Arthritis

Pigmented Villonodular Synovitis (PVNS)

Discussion

Discussion:

• Hemophilia is a defect in coagulation caused by a deficiency clotting factor or clotting that is nonfunctional.

• Deficiencies of factor VIII (antihemophilic factor) lead to classic hemophilia (hemophilia A), and deficiencies offactor IX (plasma prothromboplastin component) lead to Christmas disease (hemophilia B).

• These genetic disorders are X-Iinked recessive. They primarily affect males (1:5000), but are transmitted by females.

• The clinical and radiologic features of patients with classic hemophilia and Christmas disease are virtually identical.

Joint disease in 90% of severe disease, and is the leading cause of morbidity/cost

• Pathophysiology- multifactorial, not entirely clear: hemorrhage -> synovial hypertrophy -> hemosiderin deposition -> further synovitis -> re-hemorrhage

Hemorrhage most often occurs in the synovial joints. In descending order, the knee, ankle, elbow, shoulder, and hip are involved. The knee is the most commonly affected joint in Hemophilia and dense joint effusions are common. The knee damage may progress to fixed flexion deformity and subluxation.

Repetitive bleeding into the musculoskeletal system is the most common complication of both conditions.

Bleeding into the joints leads to hemophilic arthropathy.

Bleeding into muscles causes joint contractures

Bleeding into bone and adjacent soft tissues results in osseous and soft-tissue pseudotumors.

Imaging findings:

• Findings vary greatly with the different stages of hemophilic arthropathy (acute, subacute, or chronic hemarthrosis)

• Reflect the presence of hemarthrosis (joint effusion), synovial inflammation and hyperemia (osteoporosis and epiphyseal overgrowth), chondral erosions and subchondral resorption (osseous erosions and cysts), cartilaginous denudation (joint space narrowing), intraosseous or subperiosteal hemorrhage (pseudotumors), and osseous proliferation (sclerosis and osteophytes).

• Some abnormalities of osseous shape, such as widening of the intercondylar notch, flattening of the condylar surface, or squaring of the patella, are very characteristic of chronic hemarthrosis of the knee.

XR Findings (underestimate disease)

osteoporosis/osteonecrosis

epiphyseal overgrowth

bone cysts

joint space irregularity/narrowing

bony fusion

MRI Findings (more sensitive)

synovial thickening

blood products

cartilage damage

References

  1. Hermann, G, Gilbert, MS, Abdelwahab, IF Hemophilia: evaluation of musculoskeletal involvement with CT, sonography, and MR imaging. Am. J. Roentgenol. 1992 158: 119-123.
  2. Jaume Llauger, Jaume Palmer, Núria Rosón, Sílvia Bagué, Àngels Camins, and Rosa Cremades. Nonseptic Monoarthritis: Imaging Features with Clinical and Histopathologic Correlation. RadioGraphics 2000 20: 263S-278S.
  3. Jelbert A, Vaidya S, Fotiadis N. Imaging and staging of haemophilic arthropathy. Clin Rad (2009) 65: 1119-1128.

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