Most people who have
Paget's disease have no symptoms. Most often Paget's
disease is discovered when you see your doctor for a different reason, such as
hip pain. A bone X-ray or abnormal blood test often leads to the discovery of
When your doctor or nurse suspects Paget's disease, he or she
usually can diagnose it based on your
physical exam, bone X-rays, lab tests, and possibly a
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Your doctor or nurse will want to be sure your symptoms are not
caused by bone cancer, noncancerous tumors, fibrous tissue within the bone, or
soft and deformed bones.
Lab tests. Lab tests alone cannot be used to diagnose Paget's disease.
Your doctor can use the results of lab tests along with results of your
physical and medical exams and bone X-rays.
Alkaline phosphatase test. The most
important lab marker for Paget's disease is alkaline phosphatase, which is an
enzyme produced by bone. When
bone tissue grows quickly, as in Paget's disease,
large amounts of alkaline phosphatase are released into the blood. Other
body organs also make this enzyme, so your doctor will want to do more tests. The
test for alkaline phosphatase can be used to help diagnose people who have
symptoms of Paget's disease or to monitor whether the disease is
active or inactive.
Markers of bone breakdown. Both bone and cartilage
collagen, which is released when bone tissue breaks
down. Pyridinoline, deoxypyridinoline, and N-telopeptide (NTX) are fragments of
collagen that may be found in urine. High levels of these substances in the
urine may indicate Paget's disease. Tests for these markers may be done to
monitor your response to treatment, but they are not typically used to diagnose
X-rays. Several types of X-rays may be used to confirm the
diagnosis of Paget's disease and help find out whether there are
complications from the disease. X-ray tests may
Bone scan. This is the best test for
diagnosing Paget's disease. You may have a bone scan of your entire body to
find out which bones are affected. A bone scan is also useful for finding out
whether Paget's disease is
active or inactive and may show small breaks in bones
that cannot be seen on a regular X-ray. But a number of diseases can cause
an abnormal bone scan.
Bone X-rays. X-rays of bones affected by
Paget's disease show an uneven pattern of bone growth. The affected bones often
look deformed and thickened.
Magnetic resonance imaging (MRI). This
test may be most useful if there are nervous system problems, such as hearing
loss, vision problems, headaches, weakness or numbness of the face, or
dizziness. Bone and nerves in the head affected by Paget's disease can be seen
on an MRI.
Computerized axial tomography (CAT scan). This test is most often used when bones of the skull
or spine are affected by Paget's disease.
If you are diagnosed with Paget's disease, you will need regular
checkups by your doctor or nurse to watch the progress of the disease.
Monitoring may include blood and urine tests that measure the amount of
chemicals released from bone.
Most people are not screened for Paget's disease. But if you have
a family history of this disease, you may want to talk with your doctor or
nurse about having your blood tested (alkaline phosphatase test) when you reach age 40.