Causes

The cause of Paget's disease is unknown, although it might have to do with genes or a viral infection early in life.

The disease occurs worldwide, but is more common in Europe, Australia, and New Zealand.

In people with Paget's disease, there is an abnormal breakdown of bone tissue, followed by abnormal bone formation. The new bone is bigger, but weaker and filled with new blood vessels.

The disease may only be in one or two areas of the skeleton, or throughout the body. It often involves bones of the arms, collarbones, leg, pelvis, spine, and skull.

Symptoms

Most patients have no symptoms. Paget's disease is often diagnosed when an x-ray is done for another reason.

If they do occur, symptoms may include:

• Bone pain, joint pain or stiffness, and neck pain (the pain may be severe and present most of the time)
• Bowing of the legs and other visible deformities
• Enlarged head and skull deformities
• Fracture
• Headache
• Hearing loss  
• Reduced height
• Warm skin over the affected bone

Exams and Tests

Tests that may indicate Paget's disease include:

• Bone scan
• Bone x-ray
• Elevated markers of bone breakdown (for instance, N-telopeptide)
• Elevated serum alkaline phosphatase

This disease may also affect the results of the following tests:

• ALP (alkaline phosphatase) isoenzyme
• Serum calcium

Treatment

Patients who may not need treatment include those who:

• Only have abnormal blood tests
• Have no symptoms and no evidence of active disease

Patients with Paget's disease who are commonly treated include patients who have:

• Certain bones, such as weight-bearing bones, involved, or bony changes that are getting worse quickly (treatment can reduce the risk of fractures)
• Deformities
• Pain or other symptoms
• Problems with the skull, to prevent hearing loss

Drug therapy helps prevent further bone breakdown. Currently, there are several classes of medications used to treat Paget's disease. These include:

• Bisphosphonates -- These drugs are the first treatment, and they help increase bone density. They may be taken by mouth or given through a vein (intravenously) less often. 
• Calcitonin -- This hormone is involved in bone metabolism. It may be given as a nasal spray (Miacalcin), or as an injection under the skin (Calcimar or Mithracin)

Acetaminophen (Tylenol) or nonsteroidal anti-inflammatory medications (NSAIDs) may also be given for pain. Orthopedic surgery may be needed to correct a deformity in severe cases.

Support Groups

For additional support and resources, see the Paget Foundation.

Outlook (Prognosis)

Disease activity and symptoms can generally be controlled with current medications. A small percentage of patients may develop a cancer of the bone called osteosarcoma. Some patients will need joint replacement surgery.

Possible Complications

• Bone fractures
• Deafness
• Deformities
• Heart failure
• Paraplegia
• Spinal stenosis

When to Contact a Medical Professional

Call for an appointment with your health care provider if you develop symptoms of Paget's disease.

Alternative Names

Osteitis deformans

References

Updated: 4/11/2012

Reviewed by: Nancy J. Rennert, MD, Chief of Endocrinology & Diabetes, Norwalk Hospital, Associate Clinical Professor of Medicine, Yale University School of Medicine, New Haven, CT. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Inc.