Bone death

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The discovery of a new genetic mutation linked to osteonecrosis of the hip could allow doctors to identify and treat the disease before symptoms arise and potentially avoid hip replacements.

Osteonecrosis or “bone death” of the femoral head is a serious disease that is caused by interruption of blood flow in the hip bone. Patients experience pain as the disease progresses and the bone and surrounding joint collapse. Ultimately, in end-stage osteoarthritis, the patient becomes unable to walk and the hip joint must be replaced. “It is a severely debilitating disease that is usually linked to identifiable risk factors such as glucocorticoid treatments, blood cancers and in some rare cases, to a genetic cause,” explains Dr. Chantal Séguin, BScN’89, Hematologist-oncologist at the Bone Engineering and Vascular Biology Research Lab of the RI-MUHC, Associate Professor in the Department of Medicine (Division of Experimental Medicine), and senior author on the scientific paper published recently in the Journal of Medical Genetics.

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