Paget's Disease

Topics: Osteoporosis, Bone, Skeletal system Pages: 2 (677 words) Published: November 27, 2011
Paget’s disease or osteitis deformans (now corrected as osteodystrophia deformans) is normally a benign chronic disorder of the bone that results in various complications like bone deformities, pathological fractures and osteoarthritis (Ralston 2008). It is estimated to occur in about 2-3% of the U.S population of adults over 60 years of age and is the second most common disease after osteoporosis. The occurrence of this disease has been characterized by a significant increase in bone turnover rate and disorganization of the structure and arrangement of the bone trabeculae. This results due to increased osteoclastic activity and bone remodeling or irregular deposition, leading to the formation of large amounts of fibrous tissue which replaces marrow in the medullary spaces of the bone (Hamdy 1981). The symptoms of Paget’s disease are very commonly misdiagnosed to be as those of arthritis and other such diseases. Confirmed diagnosis requires detailed x-rays, aside from physical examinations, which show a characteristic appearance of the affected bone. Symptoms include localized bone pain, bone deformity near joints like hip, knee, ankle etc., fracture of vertebrae or neural compressions like lumbar spinal stenosis, deafness, and headaches (Ethel 1998). Researchers identify Paget’s disease to be caused due to both genetic and environmental factors, however, the latter cause is still considered to be a hypothesis and is rejected as a cause by many. Genetically, Paget’s disease has been recorded to have an autosomal dominant pattern of inheritance and is known to occur in more than one member of a family if present. Although the findings have not yet been confirmed, several studies have shown that about 40% of diagnosed pagetic patients report of a family history of the disease (Carbone 2009). Mutations or polymorphisms identified in four genes (TNFRSF11A, TNFRS11B, VCP, and SQSTM1) are known to play an important factor in the etiology of Paget’s...
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