Paget's disease - Diagnosing Paget's disease

As Paget's disease doesn't always cause symptoms, many cases are diagnosed during tests for another condition.

In some cases it may be possible to diagnose Paget's disease based on a physical examination. However, blood tests and scans will usually be needed to confirm the diagnosis.

It's not yet known whether an early diagnosis is effective in preventing the most serious complications of Paget's disease, such as hearing loss and bone deformity.

Alkaline phosphatase (ALP)

People with Paget's disease often have raised levels of an enzyme called alkaline phosphatase (ALP) in their blood. A blood test can be used to detect this, but many other conditions can also cause a raised level of ALP.

ALP is sometimes called serum alkaline phosphatase (SAP) or bone-specific alkaline phosphatase (BSAP).

X-rays and bone scans

An X-ray can determine whether the bones have become enlarged. In some cases, the condition is diagnosed after an X-ray for another problem, such as a bone fracture.

A bone scan may also be recommended. A small amount of a harmless radioactive substance is injected into your blood, which collects in the areas of bone where the most regeneration is taking place.

A special camera known as a gamma camera is used to highlight where the radiation has collected.

Further testing

Further testing is usually only required if:

you develop abnormalities affecting one or more joints
you are experiencing neurological symptoms – symptoms affecting your nerves, such as pain, numbness or tingling
a diagnosis of bone cancer is suspected (although this is very rare)

In these circumstances, tests may include:

a bone biopsy – where a sample of bone is removed under local or general anaesthetic so it can be studied in detail
a computer tomography (CT) scan – where a series of X-rays of the affected bone are taken to show a detailed three-dimensional image
a magnetic resonance imaging (MRI) scan – another type of scan where a strong magnetic field and radio waves can build up an image of the inside of the affected bone