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Haemophilia. 2011 Jul;17(4):571-8. doi: 10.1111/j.1365-2516.2010.02472.x. Epub 2011 Feb 22.

Pathophysiology, diagnosis and prevention of arthropathy in patients with haemophilia.

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Children's Healthcare of Atlanta/Emory University, Atlanta, GA, USA.


Recurrent haemarthroses in patients with severe and moderate haemophilia can result in the development of one or more target joints and subsequent degenerative joint disease. This debilitating process is characterized by physical and physiological changes in articular cartilage, synovium and bone. Models of degenerative joint disease have been examined after the addition of whole blood or blood components to cell cultures or animal joints, or by monitoring biomarkers in individuals with and without haemophilia. Inhibition of cartilage-based proteoglycan synthesis and induction of proliferative synovitis are commonly observed in these models of degenerative joint disease. Clinical evaluation of joint disease includes use of specially designed physical examination and radiographic tools. Efforts to prevent or limit arthropathy include the use of prophylactic factor infusion regimens, surgical joint intervention or both.

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