What is Hemochromatosis?
Hemochromatosis is a genetic (or hereditary) condition in which the body accumulates excess amounts of iron, and it is sometimes called hereditary hemochromatosis (HHC). Hemochromatosis may be broken down into two stages: primary or secondary.Causes, Incidence and Risk Factors
Hemochromatosis is caused by a primary genetic defect or secondary to diseases such as thalassemia or sideroblastosis. It may also be caused by multiple blood transfusions.First, excess iron accumulates in the liver and causes liver enlargement. Then, other organs become affected. The disease may lead to the development of diabetes, skin pigment changes, cardiac problems, arthritis, and testicular atrophy.
Clinical expression of the disease is twice as frequent in males as in females. 70% of patients develop symptoms between ages 40 and 60. Rare cases have occurred in childhood. Alcoholism and a family history of hemochromatosis are risk factors. The incidence is 6 out of 100,000 people.
Symptoms
The symptoms are manifold and include:- decreased urine output
- jaundice
- abdominal, chest, and/or joint pain
- symptoms related to the onset of diabetes
- depression
- shortness of breath
Signs And Tests
A physical examination shows an enlarged liver, enlarged spleen, and pigmentation changes in the skin.A sensitive and relatively inexpensive screening test for iron overload is the transferrin saturation test (serum iron divided by the total iron binding capacity). The diagnosis is most commonly confirmed by liver biopsy or by the systematic extraction of iron through blood removal.
Treatment
According to the National Digestive Disease Information Clearinghouse, "hemochromatosis is treated by drawing blood to remove excess iron from the body and keep it from building up in organs. For the first 18 months, blood is drawn once or twice a week. After that, blood is drawn once every 2 to 6 months for the rest of the person's life."Prognosis
According to the National Center for Chronic Disease Prevention and Health Promotion, "the degree of organ damage from iron overload at the time of diagnosis is the major determinant of a person’s prognosis. For a person who has no evident tissue or organ damage, proper management of the disease may result in a normal long-term outcome and life expectancy. For a person who has evident tissue or organ damage, further damage can be halted, but damage already incurred may not be reversible."Prevention
Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred.Organization Site Listings
- American Hemochromatosis Society - information on genetic testing and research for iron overload/hemochromatosis.
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