Paget's Disease

What is Paget's Disease?

Paget's disease is a chronic bone disorder that disrupts your body's normal bone recycling process. Your bones constantly break down old tissue and rebuild new tissue in a balanced cycle. When you have Paget's disease, this cycle speeds up and becomes disorganized. Your body breaks down bone too quickly and replaces it with new bone that forms too fast.

This rapid, chaotic bone formation creates bones that are larger than normal but weaker and softer. The new bone has an abnormal structure that makes it more likely to bend, fracture, or cause pain. Paget's disease most commonly affects the pelvis, skull, spine, and legs. It can involve just one bone or multiple bones throughout your body.

This condition typically develops in people over age 50 and becomes more common with age. Most people with Paget's disease can manage their symptoms and prevent complications with proper monitoring and treatment. The condition is not cancer and does not spread from bone to bone like cancer does.

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Symptoms

Bone pain that may worsen at night or with activity
Joint pain near affected bones, particularly in the hips or knees
Enlarged or misshapen bones, especially in the skull or legs
Warmth over affected bones due to increased blood flow
Headaches or hearing loss if the skull is affected
Bowed legs or other bone deformities
Fractures that occur with minimal trauma
Nerve compression causing numbness or tingling

Many people with Paget's disease have no symptoms at all, especially in the early stages. The condition is often discovered accidentally during X-rays or blood tests done for other reasons.

Causes and risk factors

The exact cause of Paget's disease remains unknown, but researchers believe it involves a combination of genetic and environmental factors. The condition tends to run in families, with about 15 to 40 percent of patients having a relative with the disease. Certain gene mutations have been identified that increase your risk, particularly mutations in the SQSTM1 gene.

Your risk increases significantly with age, and the condition is rare in people under 50. Some researchers suspect that a slow-acting viral infection in bone cells may trigger the disease in people who are genetically predisposed. Geographic factors also play a role, as Paget's disease is more common in people of European descent and less common in those of Asian or African ancestry. Men are slightly more likely to develop the condition than women.

How it's diagnosed

Paget's disease is typically diagnosed through a combination of imaging studies and blood tests. X-rays can reveal the characteristic enlarged and deformed bone structure. Bone scans help identify all affected areas throughout your body. An alkaline phosphatase blood test is the primary lab marker for Paget's disease, as levels are usually elevated when bone turnover is increased.

Some blood tests may show changes related to Paget's disease, including elevated calcium levels, particularly after a fracture or surgery. Prostatic acid phosphatase can also be elevated in rare cases. Talk to your doctor about specialized testing if you have symptoms or risk factors for Paget's disease. Your doctor may also order additional tests to rule out other bone conditions or to monitor disease progression over time.

Treatment options

Bisphosphonate medications to slow abnormal bone turnover and reduce pain
Pain relievers such as acetaminophen or nonsteroidal anti-inflammatory drugs
Calcitonin injections for patients who cannot tolerate bisphosphonates
Physical therapy to maintain joint mobility and muscle strength
Adequate calcium and vitamin D intake to support bone health
Regular weight-bearing exercise to maintain bone strength
Assistive devices like canes or walkers if bones are weakened
Surgery to repair fractures, replace damaged joints, or correct deformities
Regular monitoring with blood tests and imaging to track disease activity

Frequently asked questions

Paget's disease and osteoporosis are both bone disorders but work differently. Osteoporosis causes bones to become thin and brittle from loss of bone density. Paget's disease causes bones to become enlarged and deformed from excessive, disorganized bone growth. While osteoporosis affects the entire skeleton, Paget's disease usually affects specific bones.

There is no cure for Paget's disease, but it can be effectively managed with treatment. Bisphosphonate medications can slow the abnormal bone remodeling and reduce symptoms significantly. Many people with Paget's disease live normal lives with proper treatment and monitoring. Early diagnosis and treatment help prevent complications like fractures and deformities.

Paget's disease typically progresses very slowly over many years or decades. The rate of progression varies greatly between individuals. Some people may never develop symptoms or complications, while others may experience gradual worsening of bone deformities. Regular monitoring helps your doctor track disease activity and adjust treatment as needed.

Yes, Paget's disease has a strong genetic component and tends to run in families. About 15 to 40 percent of people with the condition have a family member who also has it. If you have a close relative with Paget's disease, you have a higher risk of developing it yourself. Genetic testing can identify certain mutations that increase risk, though not everyone with these mutations develops the disease.

Paget's disease can lead to several complications if left untreated. Fractures are more common because affected bones are weaker despite being larger. Arthritis can develop in joints near affected bones due to abnormal stress and alignment. Nerve compression can occur if enlarged bones press on nearby nerves, causing pain or numbness. Rarely, bone cancer can develop in affected areas, though this occurs in less than 1 percent of cases.

While diet and lifestyle changes cannot cure Paget's disease, they support overall bone health and treatment effectiveness. Getting adequate calcium and vitamin D helps your body maintain bone strength. Regular weight-bearing exercise keeps bones and muscles strong. Avoiding smoking and limiting alcohol intake also protect bone health and may reduce disease activity.

Monitoring frequency depends on your disease severity and treatment response. Most people need blood tests every 3 to 6 months initially to check alkaline phosphatase levels and assess treatment effectiveness. Once your condition is stable, annual monitoring may be sufficient. Your doctor may order X-rays or bone scans periodically to check for new areas of involvement or complications.

Most people with Paget's disease have a normal life expectancy with proper treatment. The condition itself is not life-threatening in most cases. Complications like heart problems from increased blood flow to affected bones are rare but can occur in severe cases. Regular monitoring and treatment help prevent serious complications and maintain quality of life.

Yes, Paget's disease can cause hearing loss when it affects the bones of the skull. The abnormal bone growth can compress the auditory nerves or affect the tiny bones in the middle ear. This occurs in about 30 to 50 percent of people whose skull is affected. Hearing aids or other treatments may help manage this complication.

You do not need to avoid all activity, but you should take precautions to prevent fractures. Avoid high-impact activities that stress affected bones, particularly if your legs are involved. Choose low-impact exercises like swimming, walking, or cycling instead. Talk to your doctor or physical therapist about which activities are safe for you based on which bones are affected and their condition.