hämophile Arthropathie
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 a 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.
The haemarthroses results in the deposit of iron in the intraarticular region, which then leads to the proliferation of the synovium, neoangiogenesis, and ultimately damage to both the articular cartilage and subchondral bone .
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 .
Location
Haemophilic arthropathy is often monoarticular or oligoarticular. Large joints are most commonly involved in the following order of frequency :
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
- widened intercondylar notch
- squared inferior margin of the patella
- bulbous femoral condyles
- flattened condylar surfaces
- changes can be classified through the Arnold-Hilgartner classification
- elbow
- enlarged radial head
- widened trochlear notch
- ankle
- 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 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
- Rhenium is emerging as the preferred isotope over Phosphorus and Yttrium particularly in medium-sized joints
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 or joint replacement can be an effective treatment for the end-stage disease.
Differential diagnosis
Consider:
- juvenile rheumatoid arthritis (plain radiograph)
- 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 hyperemia leading to growth deformities (e.g. epiphyseal enlargement, widened intercondylar notch of the knee)
- chronic periarticular erosions and subchondral cysts
Siehe auch:
- synoviale Osteochondromatose
- Pigmentierte villonoduläre Synovialitis
- Hämophilie
- synoviale Raumforderungen
- muskuloskelettale Komplikationen der Hämophilie
- haemophilia: skeletal manifestations
- Hämatom der Synovialmembran
und weiter:
Assoziationen und Differentialdiagnosen zu hämophile Arthropathie:
