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James Rupp gives blood regularly. But not for the same reasons that most people do. Rupp, a 64-year-old retired television executive, gives blood to stay alive.
Rupp's doctor discovered his body iron stores were 30 times more than normal during a routine physical examination. The body needs iron to help in the formation of red blood cells and certain proteins. Iron also helps to maintain healthy muscles.
But when a condition called hereditary hemochromatosis (HHC) is present, excess iron over time can accumulate in the liver, pancreas, heart and other tissues, causing damage. If detected early, the effects may be minimal. However, if severe organ damage has occurred, HHC can be life threatening. In some cases, a heart transplant or liver transplant may be necessary.
HHC is the most common genetic disorder among Americans of northern European descent. It affects about 3 in 1,000 people in the U.S. Men are more likely to develop symptoms of the condition than women, possibly because of iron loss during menstruation and pregnancy.
Rupp, whose blood protein was 98 percent saturated with iron, was diagnosed with HHC in 1997. He underwent treatment and had 96 pints of blood removed over the next 14 months to lower his iron levels.
However, by the time HHC was discovered, the high levels of iron already had damaged Rupp's liver. A biopsy showed he has cirrhosis (permanent scarring of the liver). To monitor for possible development of liver cancer, Rupp has liver scans (ultrasounds) every 6 months.
Rupp still has blood removed (phlebotomy) to control the iron levels in his body. He has a pint of blood removed every 3 months. Since his diagnosis, Rupp has dedicated himself to educating others about the condition.
"Actually, I was very fortunate," says Rupp. "This went on my whole life unnoticed and I had no symptoms except for arthritis in my hands. If I had let it go, I could have been dead in 5 years."
Because Rupp carries the gene for HHC, his children and wife also were checked for the disorder. "We discovered that the kids have the single gene so they aren't at great risk for HHC. It usually takes two genes to cause the disorder," says Rupp. "We also discovered my parents were both single gene carriers. But my mother, 86, and my father, 89, never showed signs of iron overload. I never suspected it, but I inherited it."
HHC is an "autosomal recessive" disorder, meaning it occurs if two abnormal genes are inherited, one from each parent. "Parents of a person with HHC usually are carriers who don't have the disorder. They usually are unaware that they are carriers. If each parent passes an abnormal gene to their child, that child will have hemochromatosis," says Dr. Brandhagen.
Children of two carriers have a 25 percent chance of inheriting two mutated genes and possibly developing hemochromatosis. "At least 1 person in 400 has the condition and 1 in 10 people are carriers of a single copy of the gene," says Dr. Brandhagen.
Normally, people absorb enough dietary iron to meet daily needs and balance normal iron losses. A person with HHC absorbs excess iron continuously. "When total body iron exceeds storage capacity (about 5 - 20 times above normal) tissue and organ damage begins," says Dr. Brandhagen. But if detected early, complications from the disorder can be avoided.
Historically, HHC was described as "bronze diabetes" in people with cirrhosis. At this late stage, the diagnosis is easy to make because iron overload causes diabetes mellitis and the skin takes on a darker color.
The earliest symptoms in people with HHC include arthritis, impotence and fatigue. However, people with the disorder frequently are symptom-free.
One of the best ways to detect HHC early is through a simple, inexpensive blood test called the serum transferrin saturation. This measures the amount of iron bound to a storage protein in the blood. The test should be performed after an overnight fast.
Test values greater than 50 percent are considered too high. Since results can vary, the test should be repeated, along with a test called serum ferritin (another measure of stored iron).
"If the tests results are elevated, your doctor should consider referring you to a specialist for further evaluation, including possible genetic testing and a liver biopsy," says Dr. Brandhagen.
Dr. Brandhagen thinks population-based screening of HHC is justified because a large number of people are at risk, a simple and inexpensive screening test exists, and effective treatment is available.
The exact number of people with the genetic defect for HHC who will develop iron overload is unknown. However, one study found that 50 percent of men and 13 percent to 20 percent of women with HHC develop symptoms of iron overload by age 40.
"Health care professionals should consider checking for HHC in people with symptoms or a family history of iron overload, as well as in all healthy adults." says Dr. Brandhagen. "Testing at age 30 usually is early enough to detect the disorder and prevent its complications."
Blood tests for iron should be interpreted with caution in young adult women because women may not develop evidence of iron overload until after menopause, when menstruation and pregnancy no longer are factors.
"If diagnosed early" before cirrhosis or diabetes develop "and treated appropriately, a person can enjoy a normal life expectancy," says Dr. Brandhagen. "If it isn't treated, HHC may lead to cirrhosis of the liver, diabetes, liver cancer and possibly early death."
Chances of an early death are 11 times greater for people with HHC who have developed cirrhosis. All signs and symptoms of HHC are preventable, but once they develop, many are not reversible.
"If iron stores are elevated and the diagnosis of HHC is confirmed, phlebotomy is the treatment of choice," says Dr. Brandhagen. This includes weekly or twice weekly blood removal until mild anemia occurs. Once depleted of excess iron, lifelong maintenance phlebotomy, about 4 times per year, usually is required.
After the presence of HHC is established, Dr. Brandhagen also encourages lifestyle adjustments. "Avoid iron supplements, including multivitamins with iron. Don't take vitamin C supplements because they increase iron absorption. And, limit alcohol consumption since alcohol and iron combine to cause more liver damage," he says.
People with several of the following symptoms or medical conditions should be checked for hereditary hemochromatosis:
Copyright © 2000 Mayo Foundation for Medical Education and Research.
This article posted August 14, 2000.