Hemochromatosis (patient information)
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What is hemochromatosis?
Hemochromatosis occurs when the body absorbs too much iron from foods (and other sources such as vitamins containing iron). This disease causes extra iron to gradually build up in the body’s tissues and organs, a term called iron overload. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart and pancreas. If this iron buildup is untreated, it can, over many years, damage the body’s organs.
What are the symptoms of hemochromatosis?
Hemochromatosis can have a variety of symptoms and symptoms may be different for men and women. Hemochromatosis can be hard to identify because early symptoms are similar to those of many other common diseases.
Although most people reach middle-age before they have symptoms of hemochromatosis, some people may have symptoms at a younger age. The symptoms depend on which organs are being affected by the iron buildup.
Early indications of hemochromatosis are often like those of other diseases and include the following symptoms:
- Fatigue (feeling very tired)
- Weakness
- Weight loss
- Abdominal pain
- Joint pain
As iron builds up in the body organs, hemochromatosis may also produce the following symptoms:
- Loss of menstrual periods or early menopause
- Loss of sex drive (libido) or impotence
- Loss of body hair
- Shortness of breath
Although not a physical symptom, another possible indication of hemochromatosis is having an elevated liver enzyme test.
As the disease progresses, hemochromatosis may cause the following more serious problems:
- Arthritis
- Liver problems, such as cirrhosis (or scarring of the liver) and liver cancer
- High blood sugar and diabetes
- Abdominal pain that does not go away
- Severe fatigue (feeling extremely tired and having a lack of energy)
- Heart problems (such as a heart beat that is not regular)
- Heart failure (such as the heart not pumping blood as well as it did previously)
- Gray-colored or bronze-colored skin
Causes
The amount of iron the human body absorbs is controlled by many genes. Genes can sometimes change (or mutate) in ways that keep them from working properly.
Hereditary hemochromatosis can occur when a person inherits two mutated copies of a gene called the HFE gene — one from each parent. Men and women have the same chance of inheriting two copies of this gene.
Not everyone who is born with two copies of the mutated HFE gene develops the disease. Scientists do not know what percentage of people who have two copies of the mutated HFE gene develop the disease. Some studies have shown that as few as 1 in 100 people will develop symptoms. Other studies have shown that as many as 50 in 100 people may develop symptoms. A person with only one copy of the mutated HFE gene is usually healthy and is said to be a “carrier” of the genetic condition. Although a carrier usually does not have hemochromatosis, if both a mother and father are carriers, a child may inherit two copies of the mutated gene, one from each parent.
Who is at risk for hemochromatosis?
People who inherit the HFE gene mutation from both parents are at the greatest risk for developing hemochromatosis. Although both men and women can inherit the gene defect, men are more likely to be diagnosed with the effects of hemochromatosis than women. Other factors that increase risk are:
- Ethnic Background: White people of northern European descent (for example, families from England, Ireland, Scotland, Denmark, France, and Scandinavia) have a higher chance of having the HFE gene mutation.
- Family History: People with a close relative (grandparent, mother, father, sibling, niece, nephew) who has hemochromatosis have a higher chance of having the HFE gene mutation.
Diagnosis
When to seek urgent medical care
Treatment options
Diseases with similar symptoms
Where to find medical care for hemochromatosis
Directions to Hospitals Treating hemochromatosis