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Paget Disease

Definition

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
Bone Matrix
Copyright © Nucleus Medical Media, Inc.

Causes

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.

Risk Factors

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
  • Smoking

Symptoms

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
  • Headaches
  • 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.

Diagnosis

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:

Treatment

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.

Medication

Medications for Paget disease include:

  • Pain medications, such as acetaminophen or non-steroidal anti-inflammatory drugs (NSAIDs)
  • Bisphosphonates to prevent the loss of bone mass and keep the disease from getting worse
  • Calcitonin to regulate calcium levels and assist in the bone building process

Surgery

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

  • Bone fracture
  • Severe degenerative arthritis
  • Bone deformity

Self-Care

Recommendations include:

  • Taking calcium and vitamin D supplements
  • Regular exercise to maintain skeletal health, joint mobility, and normal body weight
  • Avoiding excess mechanical stress on involved bones
  • A splint for an area at high risk of fracture

Prevention

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.

Revision Information

  • NIH Osteoporosis and Related Bone Diseases National Resource Center

    http://www.niams.nih.gov

  • The Paget Foundation

    http://www.paget.org

  • The Arthritis Society

    http://www.arthritis.ca

  • Osteoporosis Canada

    http://www.osteoporosis.ca

  • 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.

  • Paget disease of bone. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated November 10, 2015. Accessed May 11, 2016.

  • Schneider D, Hofmann MT, et al. Diagnosis and treatment of Paget's disease of bone. Am Fam Physician. 2002;15;65(10):2069-72.

  • What is Paget's disease of bone? NIH Osteoporosis and Related Bone Diseases National Resource Center website. Available at: http://www.niams.nih.gov/Health%5FInfo/Bone/Pagets/pagets%5Fdisease%5Fff.asp. Updated November 2014. Accessed May 11, 2016.