Introduction Haemophilia is an X linked inherited disease characterised by a deficiency in factor VIII (haemophilia A) or IX (haemophilia B) leading to impaired secondary haemostasis.
Bleeds are mainly located into the synovial joints especially knee (45%), elbow (30) end ankles (15%). Repeated bleeds lead to the development of a target joint. Infusion of concentrated FVIII/IX stops a bleed and when given as prophylaxis prevents joint bleeds.
Pathogenesis of joint damage in haemophilia Synovial bleeding leads to changes of the synovial tissue and cartilage. This process is even more stimulated by hemosiderin, which accumulates in synovial tissue thus stimulating the production of pro-inflamatory cytokines. In addition iron has a proliferative effect on synoviocytes. Blood has a direct destructive effect on cartilage as well, it leads to apoptosis of chondrocytes. And eventually to cartilage degeneration and ultimately joint destruction. Recurrent joint bleeds lead to enlargement of epiphysis, osteoporosis, subchondral cysts, erosion and osteophyte formation which is progressive.
Clinical signs Unlike rheumatoid arthritis inflammation and damage is restricted to the bleeding joint. Bleeding causes pain, restriction in range of motion (ROM) and swelling. When treated in an early stage damage will be limited. Prophylaxis with clotting factor prevents bleeds, synovitis and in the end arthropathy. After a bleed rehabilitation to restore joint function, muscle strength and propriocepsis are important to help to prevent repeated bleeds and synovitis.
Synovitis is a painless swelling, in combination with muscle waste leading to instability of the joint, which increases the risk of repeated bleeds. Most of the time there is no limitation in ROM. In case of acute synovitis (<12weeks) therapy exists of daily prophylaxis in combination with active functional physical therapy. Weight baring should be avoided and supportive measures to stabilize the joint are indicated. NSAIDs should be avoided because of the underlying increased bleeding tendency. In case of chronic synovitis synovectomy or synoviorthesis is indicated.
Patients with haemophilic arthropathy complain of pain after weight bearing or after rest, morning stiffness and limitation of ROM with increasing disability and impaired quality of life. Therapy exists of adequate pain killing, supportive functional physical therapy and adaptations. When pain persists there is an indication for orthopedic interventions. Orthopedic intervention is followed by an extended rehabilitation program.
Disclosure of Interest None declared