How Is Hemochromatosis Diagnosed?
Your doctor will diagnose hemochromatosis based on
your medical and family histories, a physical exam, and the results from tests
and procedures.
The disease is sometimes found during the diagnosis
of other diseases or conditions such as arthritis, liver disease,
diabetes, heart
disease, and impotence.
Specialists Involved
Family doctors or internal medicine specialists may
diagnose and treat hemochromatosis. Other doctors also may be involved in
diagnosing and treating the disease, including:
- A hematologist (blood disease specialist)
- A cardiologist (heart specialist)
- An endocrinologist (gland system specialist)
- A hepatologist (liver specialist)
- A gastroenterologist (digestive tract specialist)
- A rheumatologist (specialist in diseases of the
joints and tissues)
Medical and Family Histories
To learn about your medical and family histories,
your doctor may ask:
- About your signs and symptoms, including when
they started and how severe they are.
- Whether you take iron (pills or injections) with
or without vitamin C supplements (vitamin C helps your body absorb iron from
food). If so, your doctor may ask how much iron you take. This information can
help him or her diagnose secondary hemochromatosis.
- Whether other members of your family have
hemochromatosis.
- Whether other members of your family have a
history of medical problems or diseases related to hemochromatosis.
Physical Exam
Your doctor will do a physical exam to check for
signs and symptoms of hemochromatosis. He or she will listen to your heart for
irregular heartbeats and check for arthritis, abnormal skin color, and an
enlarged liver.
Diagnostic Tests and
Procedures
Your doctor may
recommend one or more tests or procedures to diagnose hemochromatosis.
Blood Tests
In hemochromatosis, the amount of iron in your body
may be too high even though the level of iron in your blood is normal. As a
result, doctors use certain
blood
tests that give clues about how much iron is in your body.
During these tests, a small amount of blood is taken
from your body. It's usually drawn from a vein in your arm using a needle. The
procedure usually is quick and easy, although it may cause some short-term
discomfort.
The blood tests you have may include transferrin
saturation (TS), serum ferritin level, and liver function tests.
Transferrin is a protein that carries iron in the
blood. The TS test shows how much iron the transferrin is carrying. This helps
tell your doctor how much iron is in your body.
Your doctor may test your serum ferritin level if
your TS level is high. A serum ferritin level test shows how much iron is
stored in your body's organs. A buildup of iron may suggest hemochromatosis.
You may have liver function tests to check for
damage to your liver. Liver damage may be a sign of hemochromatosis. If you've
been diagnosed with hemochromatosis, liver function tests may show how severe
the disease is.
Blood tests alone can't diagnose hemochromatosis.
Thus, your doctor may recommend other tests as well.
Liver Biopsy
During a liver biopsy, your doctor numbs an area
near your liver and then removes a small sample of liver tissue using a needle.
The tissue is then examined under a microscope.
A liver biopsy can show how much iron is in your
liver. This procedure also can diagnose liver damage (for example, scarring and
cancer). Liver biopsies are less common now than in the past.
Magnetic Resonance Imaging
Magnetic resonance imaging (MRI) is a safe test that
uses radio waves, magnets, and a computer to create pictures of your organs. An
MRI may be done to show the amount of iron in your liver.
Superconducting
Quantum Interference Device
A superconducting
quantum interference device (SQuID) is a machine that uses very sensitive
magnets to measure the amount of iron in your liver. It's available at only a
few medical centers.
Genetic Testing
Genetic testing can show whether you have a faulty
HFE gene or genes. However, even if you do have two faulty HFE genes, the
genetic test can't predict whether you will develop the signs and symptoms of
hemochromatosis.
Also, genetic testing may not detect other, less
common faulty genes that also can cause hemochromatosis.
There are two ways to do genetic testing. Cells can
be collected from inside your mouth using a cotton swab or a sample of blood
can be drawn from a vein in your arm and then tested.
People who have hemochromatosis or a family history
of it and are planning to have children may want to consider genetic testing
and counseling. This will help show whether one or both parents have faulty HFE
genes. A genetic counselor also can help figure out the likelihood of the
parents passing the faulty genes on to their children. |