Signs and Symptoms of Hemochromatosis
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Signs and Symptoms of Hemochromatosis

A common disease which is under-diagnosed

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The genetic defect that causes hereditary hemochromatosis is present at birth. However, the symptoms do not appear until later in life. This is because iron buildup occurs slowly throughout a person's life. Symptoms usually begin in men in their late 30's to 50's. In women, symptoms usually start 10 to 15 years after menopause, when they no longer lose iron with menstruation.

Early Symptoms of Hemochromatosis

Early signs and symptoms of hemochromatosis are similar to those of many other common conditions, making it difficult to diagnose. The symptoms vary between different people and some people with hemochromatosis do not have any early symptoms. Symptoms may include:

  • Joint pain, usually in the hands, hips, knees and/or ankles (this is one of the first and most common complaints of people with hemochromatosis)
  • Chronic fatigue (this is one of the first most common complaints of people with hemochromatosis)
  • Lack of energy
  • Weakness
  • Abdominal pain
  • Loss of sex drive (libido), impotence
  • Heart problems (heart flutters, irregular heart beat)
  • Generalized darkening of skin color (bronzing)
  • Lack of normal menstruation (amenorrhea), premature menopause
  • High blood sugar levels
  • Low thyroid function (hypothyroidism)
  • Abnormal liver function test
  • Depression
  • Shortness of breath

Advanced-Stage Symptoms of Hemochromatosis

If hemochromatosis is not detected early and treated, iron will continue to accumulate in the organs and eventually lead to serious conditions such as:

  • Arthritis (osteoarthrithis, osteoporosis) knuckles, ankles and hips
  • Liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure
  • Diabetes, high blood sugar
  • Heart problems (irregular heartbeat, heart attack or congestive heart failure)
  • Impotence
  • Infertility
  • Loss of period or early menopause
  • Abnormal pigmentation of the skin, making it look gray or bronze
  • Thyroid deficiency, hypothyroidism (which can cause depression)
  • Damage to the adrenal glands

Hemochromatosis is Under-Diagnosed

Although hemochromatosis is common, the disease is often under-diagnosed for several reasons:

1. Physicians often overlook hemochromatosis as they concentrate on treating the conditions caused by hemochromatosis (arthritis, liver disease, heart disease, diabetes), rather than looking for the root cause of the disease.

2. Hemochromatosis has a wide range of possible symptoms, making the disease very difficult to diagnose symptomatically.

3. The early symptoms of hemochromatosis are vague and mimic the symptoms of many other diseases, so physicians do not think to test for it. As a result, the disease is often not diagnosed and treated in the early stages before organ damage has occurred.

4. The later stage symptoms of hemochromatosis do not occur until midlife, so detection and treatment often does not happen until it is too late.

5. There are no "textbook" symptoms of hemochromatosis.

If hemochromatosis is discovered early and treated before organ damage has occurred, a person can live a normal, healthy life.

Hemochromatosis is Difficult to Diagnose Symptomatically

No Obvious Symptoms

Some people with hereditary hemochromatosis never have symptoms. Others experience a wide range of problems. These can vary considerably from person to person and may be different for men and women.

Often Misdiagnosed

According to the Centers for Disease Control and Prevention (CDC), people with hereditary hemochromatosis are often misdiagnosed and on average see three doctors over almost 10 years before obtaining a successful diagnosis. This remains a critical health concern, because hemochromatosis is common, and early detection with proper treatment can save lives and improve quality of life.