| Summary: | Hemophilia is an X-linked heritable coagulopathy with an overall prevalence of approximately 1 in 10,000 individuals. The most common form is factor VIII deficiency (hemophilia A), which comprises approximately 80% of cases. Factor IX deficiency (hemophilia B), comprises approximately 20% of cases. In patients with hemophilia, regular replacement therapy with clotting factor concentrates (prophylaxis) is effective in preventing recurrent bleeding episodes into joints and muscles. However, despite this success, intra-articular and intramuscular bleeding is still a major clinical manifestation of the disease. Bleeding most commonly occurs in the knees, elbows, and ankles, and is often evident from early childhood. The pathogenesis of hemophilic arthropathy is multifactorial, with changes occurring in the synovium, bone, cartilage and blood vessels. Recurrent joint bleeding causes synovial proliferation and inflammation (hemophilic synovitis) that contribute to end-stage degeneration (hemophilic arthropathy); with pain and limitation of motion severely affecting patients′ quality of life. The author conducted a comprehensive review and synthesis of the relevant literature. The author reviewed all compiled reports from computerized searches. Searches were limited to English-language sources and human subjects. Literature citations were generally restricted to published manuscripts appearing in journals listed in Index Medicus and reflected literature published up to July 1, 2013. The aim of this updated paper is to provide comprehensive and timely evidence-based guidelines and recommendations on the treatments of damaged joint among hemophilia patient. Further recommendations included the control of risk factors, interventional approaches for treatment of hemophilia, the use of bypassing factors for the inhibitors, and preventing recurrent bleeding especially in high-risk populations are provided. Prophylaxis by replacement of the missing factor in patients with hemophilia is the optimal way to prevent the occurrence of haemarthrosis and thereby the onset of arthropathy, provided that it is started early in life. Dosing should be individualized and increased in case of bleeding. Prevention of bleeding episodes through early treatment will prevent accumulation of blood in joint and the subsequent inflammation and potential hemophilic arthropathy. Treatment must be maintained until bleeding remission and patients have recovered as much of their ROM and muscular strength as possible. Clinical evaluation of the joints, gait, motion, muscle tone, functional level of disability, pain, and swelling, as well as imaging techniques, must be performed to assist in the diagnosis of chronic synovitis and to guide treatment decisions. The first step to treating synovitis, refractory to medical treatment, is the use of synovectomies, non-surgical or surgical interventions. In many cases, joint deformities have to be treated by open orthopaedic surgery. State-of-the-art treatment of patients with hemophilia requires a multidisciplinary team. Level of evidence: Level III (Systematic Literature review).
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