Haemophilic arthropathy

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

A target joint is a term used for a joint that has more than 3 bleeds in a 6-month period. Target joints tend to be weaker than other joints and re-bleed easily. Your medical provider may modify your treatment plan to break the cycle of bleeding.

As the long-term consequences of joint bleeds are not usually apparent until later in life, if you or your child has a joint bleed, it should be considered a serious medical event requiring immediate and aggressive treatment with factor.

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Epidemiology

Around 50% of patients with haemophilia 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

Haemophilia 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 characterised by synovial hyperplasia, chronic inflammation, fibrosis, and haemosiderosis. 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:

1. knee
2. elbow
3. ankle
4. hip
5. shoulder

Radiographic features

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Plain radiograph

• joint effusion is 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
  • 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 haemosiderin 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.

Treatment and prognosis

Permanent and irreversible joint damage (also known as hemophilic arthropathy) is the most common complication of hemophilia that leads to disability. It is caused by repeated bleeding into the same joint, and over time results in the destruction of the cartilage and synovium (the lining of the joint). This can cause chronic joint pain and limited movement.

Unfortunately, there is no cure for hemophilic arthropathy, and there is no way to reverse the progression of the condition once it has begun. Surgical procedures such as joint replacements help with the symptoms of joint disease but will not return your joint to 100% normal functioning.

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.

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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 hyperaemia leading to growth deformities (e.g. epiphyseal enlargement, widened intercondylar notch of the knee)
• chronic periarticular erosions and subchondral cysts

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