Paget’s disease of the bone is a rare condition that causes weak, misshapen bones. It’s chronic, meaning it’s a long-term disorder.

However, when treated early, bone deformities and pain can be reduced or prevented.

In this article, we’ll explore the causes, symptoms, and treatments of Paget’s disease of the bone. We’ll also explain how the condition is diagnosed by doctors.

Paget’s disease of bone is a chronic, progressive condition that involves the bones. It makes the bones break down and regrow quickly, causing weak and misshapen bones.

X-ray image of a bone with Paget's diseaseShare on Pinterest
This bone scan shows areas with increased cell activity or excessive bone turnover. The dark areas show high bone turnover, where the nuclear imaging tracer uptake is more intense. Adult Paget’s disease of bone. Nepal, S., Jarusriwanna, S. A., Unnanuntana, S. A. A. (2021). Stress Fracture of the Femoral Shaft in Paget’s Disease of Bone: A Case Report. Journal of Bone Metabolism, 28(2), 171–178. Copyright © 2021 The Korean Society for Bone and Mineral Research. CC BY-NC 4.0.

The condition is rare. In the United States, only 1% to 2% of the population have Paget’s disease of the bone.

The most commonly affected bones include the:

  • spine
  • skull
  • pelvis
  • lower legs

In the early stages, Paget’s disease of the bone might cause mild or no symptoms. If symptoms do appear, they may include:

  • bone pain
  • joint pain (especially in the back, hips, and knees)
  • headache
  • increased size of bones in thighs and lower legs
  • bowing of bones in thighs and lower legs
  • increased size of skull in the forehead area

The following symptoms might develop in later stages:

  • increased bowing of affected limbs
  • waddling gait
  • joint pain, or possibly joint inflammation (arthritis)
  • fractures in affected bones
  • sensory changes
  • muscular difficulties
  • hearing loss (if the skull is affected)
  • misshapen bones
  • curved spine

The exact cause of Paget’s disease of the bone is unknown. However, there are certain risk factors associated with the disease:

  • Genetics: Family history may play a role. About 10% to 30% of people with Paget’s disease have a relative with the condition.
  • Age: The condition rarely affects people younger than 40. The risk of developing Paget’s disease increases as you get older.
  • Geographical area: Paget’s disease of the bone commonly affects people of Anglo-Saxon descent living in North America, Australia, New Zealand, and Europe. It’s uncommon in Scandinavia, Asia, and Africa.
  • Viral infection: It’s thought that a “slow virus” may cause the disease in people with genetic risk factors. But more research is needed to confirm the link.

Normally, the body continuously breaks down old bone and reforms new bone. This process is called remodeling. It involves cells called osteoclasts, which break down the bone, and osteoblasts, which regrow new bone.

Remodeling naturally slows down over time. But with Paget’s disease, the process is disrupted. The osteoclasts become more active than the osteoblasts. The osteoblasts respond by reforming too much bone, which is weak and misshapen.

In the early stages, the disease will likely have no effect on your daily life. That’s because it causes mild or no symptoms early on.

But as the disease progresses, it can cause complications like pain and bone deformities. This can make it difficult to perform everyday activities unless it’s treated early.

Your doctor can use several tests to diagnose Paget’s disease of the bone:

  • Physical examination: Your doctor may perform a musculoskeletal examination to check for joint tenderness, pain, swelling, or deformities.
  • Medical history: To determine your risk of Paget’s disease, your doctor will ask questions about your family history.
  • Blood tests: If your doctor thinks you have Paget’s disease, they might order a blood test to check for alkaline phosphatase. This is an enzyme that’s often elevated in Paget’s disease.
  • Imaging tests: X-rays and bone scans can help your doctor examine your bone structure and identify any deformities.
  • Urine tests: Certain types of urine tests can check for signs of Paget’s disease.

If you have no symptoms, you might not need any treatment. In this case, you’ll need to regularly visit your doctor so they can monitor your symptoms.

But if you do have symptoms, or if you’re at risk for complications, you may need treatment. The purpose of treatment is to:

  • reduce the risk of complications
  • manage bone and joint pain
  • slow down remodeling
  • prevent or repair fractures
  • correct bone deformities

The best therapies depend on the severity of your condition. Your doctor might recommend:

  • Diet: There’s no special diet for Paget’s disease of the bone. But it’s important to get enough calcium and vitamin D, which are essential for healthy bones.
  • Assistive devices: If you have symptoms in your pelvis or leg, a cane may be useful. A brace can also help reduce pain.
  • Over-the-counter pain relievers: Nonsteroidal anti-inflammatory drugs (NSAIDs) can help manage mild bone pain. This includes drugs like ibuprofen, aspirin, and naproxen.
  • Medication: Bisphosphonates, which is given intravenously, can control the rapid remodeling of bone. Calcitonin can also regulate the reformation of new bone.
  • Surgery: Surgery might be used to treat complications of Paget’s disease. This includes surgery for fractures, misshapen bones, or severe arthritis.

If treated before complications develop, Paget’s disease has a good prognosis. Treatment can help those with the condition live a healthy and active life.

If complications do occur, surgery can typically help.

Paget’s disease of the bone is a chronic condition that progresses slowly over time. The bone breaks down too quickly, causing the bone to regrow excessively. This causes weak and deformed bones.

In most cases, the disease causes mild or no symptoms, especially in the early stages. When symptoms do occur, it usually involves pain, difficulty walking, and an increased risk of fractures.

However, Paget’s disease of the bone is treatable with medication. Early treatment can prevent complications and maintain quality of life.