Haemophilic arthropathy refers to permanent joint disease occurring in hemophilia sufferers as a long-term consequence of repeated hemarthrosis.
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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
Classification
There are several imaging-based classification systems 9:
Arnold-Hilgartner classification: knee radiographs 4,9
Pettersson score: elbows, knees, and ankles radiographs; recommended by World Federation of Hemophilia 9
hemophilia early arthropathy detection with ultrasound (HEAD-US) 11
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
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knee 3
squared inferior margin of the patella
bulbous femoral condyles
flattened condylar surfaces
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elbow 2
enlarged radial head
widened trochlear notch
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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
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sensitive for detecting areas of disease over the entire skeleton
follow-up scans can monitor treatment response
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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
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
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