Musculo-skeletal manifestations of haemophilia

Abstract

Haemophilia left untreated or treated on demand destroys the joints at a very young age. Primary haematological prophylaxis, currently the gold standard for the treatment of haemophilia, is not completely effective. Moreover, it is only available for 25–30% of patients worldwide. Advances in haematology, combined with the advances in orthopaedic surgery and other disciplines (physical medicine and rehabilitation, physiotherapy, specialised nursing, etc.), have made it possible to improve the musculo-skeletal manifestations of haemophilia in these patients through orthopaedic surgical interventions. These interventions are safe, even in the most complex cases, such as patients who develop inhibitors (antibodies to clotting factor) or are HIV+ and HCV+. The risk of bleeding in surgical interventions is higher for people with haemophilia than for other patients and there is also a greater risk of infection. Both these factors increase the risk of a poor outcome. Whatever the surgical procedure, adequate surgical haemostasis must be achieved by infusion of concentrate of the deficient factor (factor VIII or factor IX), either in recombinant or plasma-derived form, at the correct doses (ideally for 10–14days). In patients with inhibitor there are also the aPCCs (activated prothrombin complex concentrates) and rFVIIa (recombinant activated FVII). Surgical orthopaedic interventions that are commonly required by haemophilia patients include synovectomy (open or arthroscopic), osteotomy, arthroscopic joint debridement, tendon lengthening, arthrodesis of the ankle, total joint replacement, resection or percutaneous treatment of pseudotumours, fasciotomy for compartment syndrome, neurolysis of the ulnar nerve, and other orthopaedic interventions.