Paget's Disease of Bone

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Medical Author:

William C. Shiel Jr., MD, FACP, FACR

William C. Shiel Jr., MD, FACP, FACR

Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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Medical Editor:

Melissa Conrad Stöppler, MD

Melissa Conrad Stöppler, MD

Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

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Medical Editor:

Catherine Burt Driver, MD

Catherine Burt Driver, MD

Catherine Burt Driver, MD, is board certified in internal medicine and rheumatology by the American Board of Internal Medicine. Dr. Driver is a member of the American College of Rheumatology. She currently is in active practice in the field of rheumatology in Mission Viejo, Calif., where she is a partner in Mission Internal Medical Group.

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Paget's disease is a chronic condition of bone characterized by disorder of the normal bone remodeling process. Normal bone has a balance of forces that act to lay down new bone and take up old bone. This relationship (referred to as "bone remodeling") is essential for maintaining the normal calcium levels in our blood. In bone affected by Paget's disease, the bone remodeling is disturbed and not synchronized. As a result, the bone that is formed is abnormal, enlarged, not as dense, brittle, and prone to breakage (fracture).

Paget's disease affects older skeletal bone of adults. It's estimated that 1% of adults in the U.S. have Paget's disease. There is also an extremely rare form of Paget's disease in children, referred to as juvenile Paget's disease. Paget's disease is also known as osteitis deformans.

It is not known what causes Paget's disease. Recently, certain genes have been associated with Paget's disease, including the Sequestrosome 1 gene on chromosome 5. Virus infection may be necessary to trigger Paget's disease in people who have inherited the genetic tendency to develop the condition by having these genes.

Paget's disease commonly causes no symptoms and is often incidentally noted when X-ray tests are obtained for other reasons. However, Paget's disease can cause bone pain, deformity, fracture, and arthritis. The bone pain of Paget's disease is located in the affected bone. The most common bones affected by Paget's disease include the spine, the thigh bone (femur), the pelvis, the skull, the collarbone (clavicle), and the upper arm bone (humerus).

The symptoms of Paget's disease depend on the bones affected and the severity of the disease. Enlarged bones can pinch adjacent nerves, causing tingling and numbness. Bowing of the legs can occur. Hip or knee involvement can lead to arthritis, limping, as well as pain and stiffness of the hip or knee. Headache, loss of vision, and hearing loss can occur when bones of the skull are affected. With very widespread Paget's disease, it is possible to develop congestive heart failure due to an increased workload on the heart.