Paget’s Disease of Bone

Paget’s disease of bone is a rare condition that makes your bones break down more than they should. It causes pain, fractures and changes to your bones’ shape. This condition usually starts in adults over 50. Osteitis deformans is its medical name.

Your body constantly breaks down old bone tissue and replaces it throughout your life. Normally, this process happens automatically, in a balance between breakdown and replacement. But if you have Paget’s disease, this process doesn’t happen the way it should.

Your affected bones will break down more than they should. This makes your body overreact. It tries to reform the bones quickly to make up for the extra breakdown. When the new bone tissue grows in, it doesn’t form correctly. It’ll have a lower density than usual. Your new bone will be larger, softer and weaker than it should be. This leads to misshaped bones that can break more easily.

Paget’s disease can happen in one bone (monostotic) or several bones (polyostotic). It can affect a whole bone, or just a section of it. It’s most common in the:

• Pelvis
• Shin bone
• Skull
• Spine
• Thigh bone

Paget’s disease of bone symptoms

You may not notice any Paget’s disease symptoms. When you do, they’re often similar to those of more common conditions, like arthritis.

Which symptoms you have will depend on which bones are affected, but can include:

• Bone pain or joint pain
• Bone fractures
• Headaches and hearing loss
• Hip pain
• Tingling and numbness in your arms and legs
• Larger head size, a bowed arm or leg, or a curved spine

Paget’s disease usually gets worse slowly over time, but it won’t spread to other bones.

Paget’s disease causes

Researchers don’t know exactly why Paget’s disease happens. Some causes may include:

• Genetic factors
• Environmental factors (things about where you live or work)
• Some viral infections

Researchers have identified a few genes that may be related to the condition, including:

• Sequestosome 1 (SQSTM1)
• TNFRSFIIA and TNFRSFIIB
• ZNF687
• Profilin 1
• VCP

But they don’t know the exact role these genes have in developing this condition.

Risk factors

You may have a higher risk of Paget’s disease if you:

• Are over 50
• Are male
• Have Anglo-Saxon descent from England or other parts of Western Europe, the U.S., Australia or New Zealand
• Have a biological family history of Paget’s disease

Complications of Paget’s disease

Complications of Paget’s disease of bone may include:

• Arthritis
• Heart failure
• Kidney stones
• Nervous system problems
• Loosened teeth
• Vision loss
• Bone cancer

How doctors diagnose Paget’s disease

A healthcare provider will diagnose Paget’s disease by learning about your health history and doing some tests. They’ll do a physical exam, focusing on where you have symptoms. Tell your provider when you first noticed pain or other issues.

Tests that help healthcare providers diagnose Paget’s disease include:

• Alkaline phosphatase blood test
• X-rays
• Whole body bone scan

Providers often diagnose this condition by accident after doing an X-ray or giving you a blood test for another reason. That’s because Paget’s disease of bone often has mild or no symptoms, so people are less likely to seek care for it.

Your provider may refer you to a specialist if an X-ray shows signs of Paget’s disease, or if your blood has elevated alkaline phosphatase levels.

How is Paget’s disease treated?

If you don’t have symptoms, you may not need to treat Paget’s disease. But if you have symptoms or a high risk of complications, your healthcare provider may recommend treatments, including:

• Bisphosphonates: These medications help reduce bone pain. They also slow down or stop the progression of the disease. The most effective type is zoledronate (Reclast®).
• Calcitonin: Your thyroid gland makes this hormone. Calcitonin controls calcium and phosphate blood levels and promotes new bone formation.
• Pain medications: Acetaminophen, ibuprofen and COX-2 inhibitors can relieve pain from bone changes or arthritis.
• Assistive devices: Using a cane or other walking aid can help relieve pain if the disease affects your pelvis or legs. A cane can also reduce your fall risk.
• Physical therapy: Your provider may recommend working with a physical therapist to strengthen your muscles. This can also control pain.
• Getting the right amount of nutrition and physical activity: This can help keep your bones healthy and strong.
• Surgery: You may need surgery to address certain complications or reshape a deformed bone. You might eventually need a joint replacement.

When should I see my healthcare provider?

Visit your healthcare provider if:

• You have pain in your bones or joints
• You’ve had more than one fracture recently

Your provider will tell you how often you’ll need exams and X-rays.

What can I expect if I have Paget’s disease of bone?

The outlook for living with Paget’s disease is good once you get it diagnosed and start treatment. Even though there’s no cure, early treatment can slow this condition or stop it from getting worse.

You may have a higher risk of complications if Paget’s disease affects more than one of your bones. But the condition is still manageable. Your healthcare provider will help you understand what to expect. They’ll tell you which changes or new symptoms to watch out for.