Haemophilic arthropathy

Haemophilic arthropathy refers to permanent joint disease occurring in hemophilia sufferers as a long-term consequence of repeated hemarthrosis. 

Epidemiology

Around 50% of patients with hemophilia will develop severe arthropathy.

Clinical presentation

Presents similarly to osteoarthritis, with chronic joint pain, reduced range of motion and function, and reduced quality of life.

Pathology

Hemophilia is an X-linked recessive disease affecting mainly males. Haemarthroses may be spontaneous or result from minor trauma and typically first occurs before the age of two and continues to occur into adolescence. It is usual for the same joint to be repeatedly involved. In adulthood, haemarthroses are uncommon. However, proliferative chronically-inflamed synovium results in the development of haemophilic arthropathy.

Repeated haemarthroses result in the intra-articular deposition of iron, which leads to the proliferation of the synovium, neoangiogenesis, and ultimately damage to both the articular cartilage and subchondral bone ⁸.

Haemophilic arthropathy is characterized by synovial hyperplasia, chronic inflammation, fibrosis, and hemosiderosis. The synovium mass erodes cartilage and subchondral bone leading to subarticular cyst formation ³.

Location

Haemophilic arthropathy is often monoarticular or oligoarticular. Large joints are most commonly involved in the following order of frequency ²:

• knee

• elbow

• ankle

• hip

• shoulder

Radiographic features

Plain radiograph

• joint effusion is seen in the setting of hemarthrosis

• periarticular osteoporosis: from hyperemia

• epiphyseal enlargement with associated gracile diaphysis: from hyperemia (appearances can be similar to juvenile rheumatoid arthritis and paralysis)

• secondary degenerative disease: symmetrical loss of joint cartilage involving all compartments equally with periarticular erosions and subchondral cysts, osteophytes and sclerosis

• knee ³

  • widened intercondylar notch

  • squared inferior margin of the patella

  • bulbous femoral condyles

  • flattened condylar surfaces

  • changes can be classified through the Arnold-Hilgartner classification ⁴

• elbow ²

  • enlarged radial head

  • widened trochlear notch

• ankle ¹

  • talar tilt: relative undergrowth of the lateral side of the tibial epiphysis leads to a pronated foot

MRI

• good for detection of early disease

• thickened synovium with low signal due to hemosiderin susceptibility effect: siderotic synovitis

• enhancing synovium due to synovitis

• joint effusion

• cartilage loss and erosions can be well seen

Nuclear medicine

• bone scintigraphy

  • sensitive for detecting areas of disease over the entire skeleton

  • follow-up scans can monitor treatment response

• radiosynoviorthesis

  • radioisotopes can be injected therapeutically into a joint to decrease bleeding and synovitis

  • rhenium¹⁸⁶ is emerging as the preferred isotope over phosphorus³² and yttrium⁹⁰ particularly in medium-sized joints ⁵

Treatment and prognosis

Early factor VIII or IX replacement may prevent or delay joint destruction. Radiosynoviorthesis has been shown to be effective in reducing bleeding and effusion in selected cases. Surgical arthrodesis ⁶ or joint replacement ⁷ can be an effective treatment for the end-stage disease.

Differential diagnosis

• juvenile rheumatoid arthritis (plain radiograph)

• paralysis

• tenosynovial giant cell tumor (MRI)

• synovial osteochondromatosis (MRI)

Practical points

• mono- or oligoarticular involving large joints

• joint effusion: may show fluid-fluid levels related to the blood products

• chronic haemarthroses and hyperemia leading to growth deformities (e.g. epiphyseal enlargement, widened intercondylar notch of the knee)

• chronic periarticular erosions and subchondral cysts