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Haemophilic arthropathy refers to permanent joint disease occurring in hemophilia sufferers as a long-term consequence of repeated hemarthrosis.
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Around 50% of patients with hemophilia will develop severe arthropathy.
Presents similarly to osteoarthritis, with chronic joint pain, reduced range of motion and function, and reduced quality of life.
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.
Haemophilic arthropathy is often monoarticular or oligoarticular. Large joints are most commonly involved in the following order of frequency 2:
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
squared inferior margin of the patella
bulbous femoral condyles
flattened condylar surfaces
changes can be classified through the Arnold-Hilgartner classification 4
enlarged radial head
widened trochlear notch
talar tilt: relative undergrowth of the lateral side of the tibial epiphysis leads to a pronated foot
good for detection of early disease
thickened synovium with low signal due to hemosiderin susceptibility effect: siderotic synovitis
enhancing synovium due to synovitis
cartilage loss and erosions can be well seen
sensitive for detecting areas of disease over the entire skeleton
follow-up scans can monitor treatment response
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.
juvenile rheumatoid arthritis (plain radiograph)
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
- 1. Hemophilia, Musculoskeletal Complications by Ray F DECKilcoyne from emedicine.com. Hemophilia, Musculoskeletal Complications
- 2. Ralph Weissleder, Jack Wittenberg, Mukesh G. Harisinghani. Primer of Diagnostic Imaging. (2003) ISBN: 0323023282 - Google Books
- 3. Wolfgang Dähnert. Radiology Review Manual. (2007) ISBN: 9780781766203 - Google Books
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- 6. Tsailas P & Wiedel J. Arthrodesis of the Ankle and Subtalar Joints in Patients with Haemophilic Arthropathy. Haemophilia. 2010;16(5):822-31. doi:10.1111/j.1365-2516.2010.02248.x - Pubmed
- 7. Barg A, Elsner A, Hefti D, Hintermann B. Haemophilic Arthropathy of the Ankle Treated by Total Ankle Replacement: A Case Series. Haemophilia. 2010;16(4):647-55. doi:10.1111/j.1365-2516.2010.02221.x - Pubmed
- 8. Melchiorre D, Manetti M, Matucci-Cerinic M. Pathophysiology of Hemophilic Arthropathy. J Clin Med. 2017;6(7):63. doi:10.3390/jcm6070063 - Pubmed