Paget disease is a bone condition that results in enlarged and deformed bones. It is a 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.
|Normal Bone Structure|
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Paget disease is caused by a malfunction in bone formation. Normally, bones are constantly being broken down and rebuilt. With Paget 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. About one third of cases are genetic, due to a gene mutation. Paget disease may be triggered early in life by a viral infection.
Paget’s disease is more common in people of Northern European descent and those who are 55 years of age and older.
Other factors that may increase your risk of Paget’s disease include:
- Having a family history, especially in a parent, sibling, or child
- Having a specific gene called SQSTM1
Most people with Paget disease don’t have symptoms. For those with symptoms, Paget disease may cause:
- Chronic bone pain, especially in the legs, hips, or spine
- Swelling or deformity of bones in the limbs
- Broken bones
- Bowing of a limb
- Pain or loss of sensation from pressure on nerves
Paget disease that involves the skull may cause:
- Increased head size
- Facial pain
- Hearing loss
Paget disease doesn’t spread to other bones, but the symptoms do get worse over time. It may also be associated with arthritis, heart disease, kidney stones, loose teeth, and nervous system problems.
You will be asked about your symptoms and medical history. A physical exam will be done. Your doctor will order blood tests.
Imaging tests take pictures of internal body structures. These are done with:
- Bone scan
- MRI scan
- CT scan
It is best to begin treatment as soon as possible, sometimes before symptoms develop. Talk with your doctor about the best treatment plan for you.
There are no current guidelines to prevent the onset of Paget disease. People with primary family members who have Paget disease are encouraged to have a blood test every 2-3 years after age 40.