Paget's Disease

What is Paget's disease?

Paget's disease is an ongoing (chronic) skeletal disease in which normal bone formation is disrupted. Normally, the body maintains a healthy balance between the cells that break down bone tissue and those that rebuild it. That balance is disturbed in Paget's disease, causing the affected bones to weaken, thicken, and become deformed. Involving only limited areas of the skeleton, the bones most commonly affected are the pelvis, skull, collarbone, vertebrae, and the long bones of the leg.

Commonly affecting middle-aged and the elderly, the disorder is also known as osteitis deformans. Approximately three percent of the population over the age of forty are affected with Paget's disease. The incidence increases with age. Men are affected more often than women are, and the disorder tends to run in families. The frequency varies from one part of the country to another. This suggests that it may be caused by an infective agent, possibly a virus.

How is it diagnosed?

History: Paget's disease often causes no symptoms (asymptomatic). When symptoms do occur, they involve deep, aching bone pain usually occurring at night. Changes in the skull may lead to inner ear damage, resulting in deafness, ringing in the ears (tinnitus), or impaired balance (vertigo). It may also result in headaches. Enlarged vertebrae can press on the spinal cord, causing pain or paralysis of the legs. Pelvis involvement can cause severe arthritis of the hips. Affected bones are prone to fracture.

Physical exam: Paget's disease can cause bone deformity, especially bowing of the long bones in the legs. Skull changes may lead to distortion of the facial bones, producing a lion-like appearance (leontiasis).

Tests: Because Paget's disease often causes no symptoms, it is usually discovered from x-rays taken for some other reason. X-ray studies indicate areas of porous, thickened bone. Blood tests reveal an elevated level of the enzyme associated with bone cell formation (alkaline phosphatase). Enzyme level indicates the extent and activity of the disease.

How is Paget's disease treated?

No treatment is necessary if no symptoms are present (asymptomatic). Painkillers (analgesics) and anti-inflammatory medications help to relieve painful symptoms. Vitamin D and hormones, which promote growth and repair (anabolic), may be of help in treating thinning, brittle bones (osteoporosis). The hormone, calcitonin, and other drugs that have the same effect (etidronate disodium and mithramycin) control resorption of bone, reduce alkaline phosphatase levels, promote normal bone formation, and relieve bone pain. In severe cases, surgery may be required to correct deformities or treat secondary arthritis.

Medications

Fosamax (Alendronate), Actonel (Residronate)

Activity

• Rest in bed during active phases. Move or turn often to prevent pressure sores. Resume your normal activities during remissions.
• Avoid excessive physical stress on involved bones.

What might complicate it?

Affected bones are prone to fracture. Bone cancer may develop. In rare cases, when many bones are involved, increased blood flow through the affected bones can actually cause heart failure.

Predicted outcome

Most people with Paget's disease do not require treatment. In those who do, medication is effective in relieving painful symptoms. Surgery may be needed to correct deformities. In severe cases, disability may be permanent.

Alternatives

Another possible diagnosis is osteoarthritis.

Appropriate specialists

Orthopedist, endocrinologist, and rheumatologist.

Last updated 6 April 2018