What are the symptoms of hemochromatosis?
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Joint pain is the most common complaint of people with hemochromatosis. Other common symptoms include fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems. However, many people have no symptoms when they are diagnosed.
- arthritis
- liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure
- damage to the pancreas, possibly causing diabetes
- heart abnormalities, such as irregular heart rhythms or congestive heart failure
- impotence
- early menopause
- abnormal pigmentation of the skin, making it look gray or bronze
- thyroid deficiency
- damage to the adrenal glands
How is hemochromatosis tested?
Screening for hemochromatosis—testing people who have no symptoms—is not a routine part of medical care or checkups. However, researchers and public health officials do have some suggestions.
· Siblings of people who have hemochromatosis should have their blood tested to see if they have the disease or are carriers.
· Parents, children, and other close relatives of people who have the disease should consider being tested.
· Doctors should consider testing people who have joint disease, severe and continuing fatigue, heart disease, elevated liver enzymes, impotence, and diabetes because these conditions may result from hemochromatosis.
Since the genetic defect is common and early detection and treatment are so effective, some researchers and education and advocacy groups have suggested that widespread screening for hemochromatosis would be cost-effective and should be conducted. However, a simple, inexpensive, and accurate test for routine screening does not yet exist and the available options have limitations. For example, the genetic test provides a definitive diagnosis, but it is expensive. The blood test for transferrin saturation is widely available and relatively inexpensive, but it may have to be done twice with careful handling to confirm a diagnosis and show that the result is the consequence of iron overload.
