How is Paget's disease usually discovered if there are no symptoms?

It is most commonly detected incidentally during routine blood screening that shows an unexplained elevation in alkaline phosphatase (ALP) levels, or during an X-ray or CT scan performed for an unrelated condition such as arthritis or abdominal pain.

Can Paget's disease lead to bone cancer?

In rare cases, affecting less than 1 percent of patients, Paget's disease can undergo malignant transformation into an aggressive bone cancer called osteosarcoma. A sudden increase in localized pain, rapid swelling, or the appearance of a new lump over an affected bone requires prompt clinical evaluation and imaging.

What medications are typically used to treat Paget's disease of bone?

Bisphosphonates are the primary medical therapy. An intravenous infusion of zoledronic acid is often the first-line treatment, providing long-lasting suppression of abnormal bone turnover, though oral bisphosphonates such as alendronate or risedronate may also be used.

Should family members of someone with Paget's disease get tested?

Because Paget's disease has a significant genetic component, first-degree relatives (parents, siblings, and children) over the age of 40 should discuss screening with their doctor. A simple periodic blood test to check serum alkaline phosphatase levels can detect early, asymptomatic bone involvement.

Paget's Disease of Bone

Paget's disease is a chronic bone disorder characterized by abnormal bone breakdown and regrowth, leading to misshapen and fragile bones.

What is Paget's disease of bone?

Paget's disease of bone is a chronic bone disorder. Normally, there is a process in which your bones break down and then regrow. In Paget's disease, this process is abnormal. There is excessive breakdown and regrowth of bone. Because the bones regrow too quickly, they are bigger and softer than normal. They may be misshapen and easily fractured (broken). Paget's usually affects just one or a few bones.

Causes and Risk Factors

Researchers do not know for sure what causes Paget's disease. Environmental factors may play a role. In some cases, the disease runs in families, and several genes have been linked to the disease.

The disease is more common in older people and those of northern European heritage. If you have a close relative who has Paget's, you are much more likely to have it.

Symptoms

Many people do not know that they have Paget's, because it often has no symptoms. When there are symptoms, they are similar to those of arthritis and other disorders. The symptoms include:

Pain, which may be due to the disease or to arthritis, which can be a complication of Paget's
Headaches and hearing loss, which can happen when Paget's disease affects the skull
Pressure on the nerves, which can happen when Paget's disease affects the skull or spine
Increased head size, bowing of a limb, or curvature of the spine (in advanced cases)
Hip pain, if Paget's disease affects the pelvis or thighbone
Damage to the cartilage of your joints, which may lead to arthritis

Usually, Paget's disease gets worse slowly over time. It does not spread to normal bones.

Complications

Paget's disease can lead to other complications, such as:

Arthritis, because the misshapen bones can cause increased pressure and more wear and tear on the joints
Heart failure, as the heart has to work harder to pump blood to affected bones (more likely if you also have hardening of the arteries)
Kidney stones, which can happen when the excessive breakdown of the bone leads to extra calcium in the body
Nervous system problems, since the bones can cause pressure on the brain, spinal cord, or nerves
Osteosarcoma, cancer of the bone
Loose teeth, if Paget's disease affects the facial bones
Vision loss, if Paget's disease in the skull affects the nerves (this is rare)

Diagnosis

Your health care provider may use many tools to make a diagnosis:

A medical history, which includes asking about your symptoms
A physical exam
An x-ray of the affected bones (Paget's disease is almost always diagnosed using x-rays)
An alkaline phosphatase blood test
A bone scan

Sometimes the disease is found by accident when one of these tests is done for another reason.

Treatment and Management

To avoid complications, it is important to find and treat Paget's disease early. The treatments include:

Medicines: There are several different medicines to treat Paget's disease. The most common type is bisphosphonates. They help reduce bone pain and stop or slow down the progress of the disease.
Surgery: Sometimes needed for certain complications, including:
- Allowing fractures to heal in a better position
- Replacing joints such as the knee and hip when there is severe arthritis
- Realigning a deformed bone to reduce the pain in weight-bearing joints
- Reducing pressure on a nerve if enlargement of the skull or spine injuries affects the nervous system

Diet and exercise do not treat Paget's, but they can help to keep your skeleton healthy. If you do not have kidney stones, you should make sure to get enough calcium and vitamin D through your diet and supplements. Besides keeping your skeleton healthy, exercise can prevent weight gain and maintain the mobility of your joints. Talk with your health care provider before you start a new exercise program to ensure it does not put too much stress on the affected bones.