Paget's disease of bone (also termed osteitis deformans or ambiguously, just Paget's disease) is caused by the excessive breakdown and formation of bone, followed by disorganized bone remodeling. This causes affected bone to weaken, resulting in pain, misshapen bones, fractures and arthritis in the joints near the affected bones. Rarely, it can develop into a primary bone cancer known as Paget's sarcoma. Often Paget's disease is localized to only a few bones in the body. The pelvis, femur, and lower lumbar vertebrae are the most commonly affected bones. Paget's disease typically is localized, affecting just one or a few bones, as opposed to osteoporosis, for example, which usually affects all the bones in the body.
A later phase of the disease is characterized by the replacement of normal bone marrow with highly vascular fibrous tissue. Because early diagnosis and treatment is important, after age 40, siblings and children of someone with Paget's disease should have an alkaline phosphatase blood test every two or three years. If the alkaline phosphatase level is above normal, other tests such as a bone-specific alkaline phosphatase test, bone scan, or X-ray can be performed.
Decisions about treating Paget's disease may be complicated as the disease often affects people differently. In addition to this, it is sometimes difficult to predict whether a person with Paget's disease, who shows no signs or symptoms of the disorder, will develop symptoms or complications (such as a bone fracture) in the future. Although there is no cure for Paget's disease, medications (bisphosphonates and calcitonin) can help control the disorder and lessen pain and other symptoms. Medications are often successful in controlling the disorder, especially when started before complications begin.
Paget's disease affects from 1.5 to 8.0 percent of the population, depending on age and country of residence. Paget's disease is rare in people less than 55 years of age. Men are more commonly affected than women (3:2). The disease is named after Sir James Paget.
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http://bmchealthservres.biomedcentral.com/articles/10.1186/1472-6963-8-116 protocol for stage 2 of the gap study (genetic testing acceptability for paget's disease of bone): a questionnaire study to investigate whether relatives of people with paget's disease would accept genetic testing and preventive treatment if they were available by anne l langston et al., bmc health services research20088:116 doi: 10.1186/1472-6963-8-116
http://bmchealthservres.biomedcentral.com/articles/10.1186/1472-6963-6-71 protocol for stage 1 of the gap study (genetic testing acceptability for paget's disease of bone): an interview study about genetic testing and preventive treatment: would relatives of people with paget's disease want testing and treatment if they were available? by anne l langston et al., bmc health services research20066:71 doi: 10.1186/1472-6963-6-71