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Frequently
Asked Questions
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Q. What is Paget's disease of the bone?
A.
Paget's disease of the bone is a chronic disorder that typically results in enlarged and deformed bones in one or more regions of the skeleton. In Paget's disease of the bone the two bone cells, the osteoclast (the cell that resorbs or breaks bone down) and the osteoblast (the cell that forms new bone) do not interact normally. When this happens, excessive bone breakdown and formation can produce bone that is weak. As a result, bone pain, arthritis, noticeable deformities and fractures can occur.
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Q. What causes Paget's disease of the bone?
A.
The causes of Paget's disease of the bone are still not clearly defined. Research suggests that Paget's disease of the bone may be caused by a slow virus” infection of bone, a condition that is present for many years before Paget's disease symptoms appear. There is also a hereditary factor since the disease sometimes is present in more than one member of a family. This hereditary factor may be the reason that members of a family who have Paget's disease are susceptible to the suspected virus. There is also recent evidence that abnormalities of a gene on the 5th chromosome produced a susceptibility to Paget's disease in several families where Paget's disease was found in multiple family members. The way in which this abnormal gene interacts with the potential viral cause of Paget's disease is not known.
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Q. Which groups of people are usually affected by Paget's disease and how common is the disease?
A.
Paget's disease is rarely diagnosed in people under 40. The prevalence ranges from 1.5 percent to 8 percent in older adults depending on the person's age and area of the world where he or she lives. Familial Paget's disease ranges from 10 percent to 40 percent in different parts of the world. More men than women develop Paget's disease.
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Q. Should siblings or children of patients with Paget's disease ask their physicians for any special diagnostic tests?
A.
After the age of 40, siblings and children of a patient with Paget's disease should have a standard alkaline phosphatase blood test every 2 or 3 years. If the alkaline phosphatase level is above the normal range, which varies according to the laboratory test used, and there is no sign of liver disease, a bone scan may be done. If the bone scan is positive, an x-ray of the suspicious area or areas should be done to confirm a diagnosis.
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This content has been provided by the Paget Foundation, an independent, not-for-profit organization dedicated to addressing Paget's disease of the bone and other disorders. The Paget Foundation is not affiliated with Novartis Pharmaceuticals.
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