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Paget's Disease

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Condition Detail

(Osteitis Deformans)

Definition

Paget's disease results in enlarged and deformed bones. It is a chronic (long-term) condition. Any bone in the body can be affected. However, the most common sites are the spine, skull, pelvis, thighs, and lower legs. The disease does not usually spread to other normal bones.

Normal Bone Structure

Causes

Paget's disease is caused by a malfunction in bone formation. Normally, bones are constantly being broken down by cells called osteoclasts. They are then rebuilt by cells called osteoblasts. With Paget's disease, bones are broken down abnormally fast, and new bone replacement is loose and bulky, instead of strong and compact. These poorly formed bones may become weak. They also may bend over time.

The exact cause of this bone malformation is unknown. It is associated with family history. Some experts believe that Paget's disease may be triggered early in life by a viral infection.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition. Risk factors for Paget's disease include:

Family history of Paget's disease, especially in a parent, sibling, or child
Race: Anglo-Saxon, European
Age: 40 or older
In United States, residence in northern states

Symptoms

In the early stages, most people have no noticeable symptoms. In later stages, symptoms may include:

Swelling or deformity of a limb
Increased head size
Bowing of a limb
Curvature of the spine
Chronic bone pain, especially legs, hips, or spine
Frequent fractures
Problems with walking or gait
Headaches, facial pain, or hearing loss (when the skull bones are affected)
Swollen or painful joints due to damaged joint cartilage
Numbness, tingling, pain, or weakness from pressure on nerves

Depending on the bone site, Paget's disease may result in:

Arthritis, usually osteoarthritis
Carpal tunnel syndrome
High calcium in blood
Kidney stones
Hearing problems (common)
Dental problems
Rarely: eye problems, congestive heart failure, bone cancer (sarcoma)

Diagnosis

Your doctor will ask about your symptoms and medical history. He or she will do a physical exam. Tests may include:

Blood tests—such as those for alkaline phosphatase or calcium
X-ray—a test that uses radiation to take a picture of the bones
Bone scan—a series of pictures of bones taken after injection of a small amount of radioactive material

Treatment

It is best to begin treatment as soon as possible. Treatment options include:

Medication

Medications may include:

Pain medicine—such as acetaminophen (Tylenol) or nonsteroidal anti-inflammatory drugs
Bisphosphonates—usually by tablet or by injection
Calcitonin—administered by injection or nasal spray

Surgery

Surgery may be required if you have one of the following conditions:

Bone fracture
Severe degenerative arthritis
Bone deformity

Self-Care

Recommendations include:

Calcium, usually about 1,000-1,500 mg per day
Adequate exposure to sunshine to promote vitamin D production in the skin (but, limit time in the sun to prevent sun burning, wrinkling, and aging)
Intake of adequate vitamin D, usually about 400 mg per day (older people may need more)
Regular exercise to maintain skeletal health, joint mobility, and normal body weight
Avoidance of excess mechanical stress on involved bones
A splint for an area at high risk for fracture

Prevention

There is no known way to prevent the onset of Paget's disease. People with primary family members who have Paget's disease are encouraged to have a routine alkaline phosphatase blood test every 2-3 years after age 40.

RESOURCES

NIH Osteoporosis and Related Bone Diseases National Resource Center http://www.niams.nih.gov/Health%5FInfo/Bone

The Paget Foundation http://www.paget.org

CANADIAN RESOURCES

The Arthritis Society http://www.arthritis.ca

Osteoporosis Canada http://www.osteoporosis.ca

References

Albagha OM, Genetic Determinants of Paget's Disease (GDPD) Consortium. Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. Nat Genet. 2011;43(7):685-689.

Michou L, Brown JP. Emerging strategies and therapies for treatment of Paget's disease of bone. Drug Des Devel Ther. 2011;5:225-239.

National Institutes of Health Osteoporosis and Related Bone Diseases, National Resource Center website. Available at: http://www.niams.nih.gov/Health%5FInfo/Bone. Accessed October 11, 2005.

Questions and answers about Paget's disease of bone. The Paget Foundation website. Available at: http://www.niams.nih.gov/Health%5FInfo/Bone. Published 2008. Accessed July 24, 2009.

Schneider D, Hofmann MT, et al. Diagnosis and treatment of paget's disease of bone. Am Fam Physician. 2002;15;65(10).

Revision Information

Reviewer: Lawrence Frisch, MD, MPH
Update Date: 09/27/2011 -

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

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