Haemophilic arthropathy
Updates to Article Attributes
Haemophilic arthropathy refers to permanent joint disease occurring in haemophilia sufferers as a long-term consequence of repeated haemarthrosis. Around 50% of patients with haemophilia will develop a severe arthropathy.
Epidemiology
Haemophilia is an x-linked recessive disease affecting 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.
Pathology
There is synovial hyperplasia, chronic inflammation, fibrosis, and haemosiderosis. 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 seen in the setting of haemarthrosis
- periarticular osteoporosis: from hyperaemia
- epiphyseal enlargement with associated gracile diaphysis: from hyperaemia (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
- 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
hemosiderinhaemosiderin susceptibility effect: siderotic synovitis - enhancing synovium due to synovitis
- joint effusion
- cartilage loss and erosions can be well seen
Nuclear medicine
- bone scan
- 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
Consider
- juvenile rheumatoid arthritis (plain raiograph)
- paralysis
- pigmented villonodular synovitis (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 hyperaemia leading to growth deformities (e.g. epiphyseal enlargement, widened knee intercondylar notch)
- chronic periarticular erosions and subchondral cysts
-<a href="/articles/arnold-hilgartner-classification-haemophilic-arthropathy-1">Arnold-Hilgartner classification</a> <sup>4</sup>- +<a href="/articles/arnold-hilgartner-classification-of-haemophilic-arthropathy">Arnold-Hilgartner classification</a> <sup>4</sup>
-<li>thickened synovium with low signal due to hemosiderin susceptibility effect: <a href="/articles/siderotic-synovitis">siderotic synovitis</a>- +<li>thickened synovium with low signal due to haemosiderin susceptibility effect: <a href="/articles/siderotic-synovitis">siderotic synovitis</a>
-</ul><h4>Treatment and prognosis</h4><p>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 <sup>6</sup> or joint replacement <sup>7</sup> can be an effective treatment for the end-stage disease.</p><h4>Differential diagnosis</h4><ul>- +</ul><h4>Treatment and prognosis</h4><p>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 <sup>6</sup> or joint replacement <sup>7</sup> can be an effective treatment for the end-stage disease.</p><h4>Differential diagnosis</h4><p>Consider</p><ul>
Image 15 MRI (STIR) ( create )
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