Chronic arthropathy is one of the most common complications of haemophilia, affecting up to 90 per cent of patients aged 4 and over in at least one joint.
the study aims to assess gene expression in biological samples collected via synovectomy and joint replacement surgery, as well as in peripheral blood, in patients with severe haemophilia A or B; to compare these data with those from patients with osteoarthritis and rheumatoid arthritis; and to correlate the gene expression data with information relating to the clinical and laboratory phenotype, the history of inhibitors, and ultrasound and histological findings.
Diagnosis of severe haemophilia A or B
The need to perform therapeutic arthrocentesis, surgical synovectomy or orthopaedic joint replacement surgery for haemophilic arthropathy in all potentially affected joints.
signed informed consent
Current presence of an inhibitor (anti-FVIII or anti-FIX);
Inability to give informed consent to participate in the study.
Single group
Surgery
Procedure/SurgeryParticipation in the study will be offered to patients with severe haemophilia A or B or to patients with osteoarthritis or rheumatoid arthritis and who, for clinical reasons, require a synovectomy or joint replacement surgery. Patients who give their consent for the collection of biological material will also have blood samples taken for the collection, storage and use of the samples within the timeframe specified by the study.
gene expression
Study of gene expression in samples of synovial membrane or blood
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