Hemochromatosis:

“What are the symptoms of hemochromatosis?

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.

If the disease is not detected and treated early, iron may accumulate in body tissues and eventually lead to serious problems such as

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
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How is hemochromatosis diagnosed?

A thorough medical history, physical examination, and routine blood tests help rule out other conditions that could be causing the symptoms. This information often provides helpful clues, such as a family history of arthritis or unexplained liver disease.

Blood tests can determine whether the amount of iron stored in the body is too high. The transferrin saturation test reveals how much iron is bound to the protein that carries iron in the blood. Transferrin saturation values higher than 45 percent are considered too high.

The total iron-binding capacity test measures how well your blood can transport iron, and the serum ferritin test shows the level of iron in the liver. If either of these tests shows higher than normal levels of iron in the body, doctors can order a special blood test to detect the HFE mutation, which will confirm the diagnosis. If the mutation is not present, hereditary hemochromatosis is not the reason for the iron buildup and the doctor will look for other causes.

A liver biopsy may be needed, in which case a tiny piece of liver tissue is removed and examined with a microscope. The biopsy will show how much iron has accumulated in the liver and whether the liver is damaged.

Hemochromatosis is considered rare and doctors may not think to test for it. Thus, the disease is often not diagnosed or treated. “