Paget's Disease of Bone


An Underdiagnosed Disease

Experts believe that Paget's disease is underdiagnosed; people with a mild case and no symptoms may never know they have the disease. Or, they may receive a diagnosis by accident when x-rays or other laboratory tests done for another reason reveal Paget's disease.

When symptoms do occur, they usually appear gradually and, in the early stages, may be confused with those of arthritis or other medical problems. Sometimes a person may not receive a clear diagnosis until the disease progresses and complications develop.

Diagnostic Tests

X-rays are almost always used to diagnose Paget's disease, but the disease may be discovered using one of three tests:

  • x-rays
  • an alkaline phosphatase blood test
  • or a bone scan.

Bones affected by Paget's disease have a distinctive appearance on x-rays, which may show increased bone density, an abnormal bone structure, bowing, and enlargement. X-rays of leg bones may show very tiny fractures called microfractures.

The enzyme alkaline phosphatase is involved in the normal growth of new bone. Having higher-than-normal levels of this chemical in the blood, however, may be a sign of Paget's disease. The alkaline phosphatase blood test measures the level of this substance.

A bone scan provides a picture of the affected bones that doctors can use to see how far the disease has progressed. If a bone scan done for another reason suggests Paget's disease, the doctor can order x-rays to confirm the diagnosis.

If the Disease Runs in the Family

Early diagnosis and treatment of Paget's disease is important. Because Paget's disease can be hereditary, some experts recommend that the brothers, sisters, and children of anyone with the disease talk to their doctor about having an alkaline phosphatase blood test every 2 to 3 years after about age 40.