Genetic Disease Leads to Iron Overload
Hemochromatosis often missed because symptoms mimic other ailments
SATURDAY, July 6, 2002 (HealthDayNews) -- A genetic disease that can be tough to diagnose because it often mimics other illnesses is finally getting the attention it deserves.
Hemochromatosis is an inherited disorder that causes a person to absorb twice as much iron as the body needs. If untreated, the disease can cause serious, eventually fatal, damage to organs in the body, most commonly the liver, heart and pancreas.
Because its symptoms -- joint pain, fatigue, abdominal pain -- are similar to those of other diseases like arthritis, liver disease and certain kinds of heart ailments, hemochromatosis has historically been under-diagnosed, say doctors who treat the disease.
However, that's changing.
"There has been a huge amount of literature on this so that serious cases are much less common," says Dr. James Cook, a professor of medicine at Kansas University School of Medicine, who treats people with hemochromatosis. "I now see advanced cases, people with diabetes or heart failure, only once or twice a year, not nearly as much as 10 or 15 years ago."
Approximately three out of 1,000 white people carry the defective gene that causes hemochromatosis, making it the most common genetic disorder among Americans of northern European descent, according to the Mayo Clinic. The disease is less common in blacks, Asian-Americans and Hispanics.
It also affects men more often than women, perhaps because women lose iron during menstruation and pregnancy, making them less likely to develop the condition, the Mayo Clinic says.
Healthy people usually absorb about 10 percent of iron from the foods they eat, while people with hemochromatosis absorb approximately 20 percent, according to the National Institutes of Health (NIH). The body has no way to rid itself of the excess iron, which builds up in the body's tissues, especially the liver, heart and pancreas, causing serious damage that can be fatal.
Treatment is bloodletting, called phlebotomy, done on a regular basis to keep iron levels low, Cook says.
"Without bleeding, patients would go on to die of diseases like liver failure and diabetes," he says. "But if you catch it early, you can return the body to health."
Early diagnosis is difficult, however, because the accumulation of the iron is very slow, usually not even sufficient to measure before the age of 20, says Dr. Margit A. Krikker, founder of the Hemochromatosis Foundation. There are usually few physical symptoms of the disease at that age.
"Because the symptoms don't occur until later adulthood, they may be confused with the symptoms for other diseases, like diabetes, liver disease and heart problems," she says.
While there is a genetic test to determine if you have hemochromatosis, it is expensive. A blood test, however, called a transferrine saturation test, is widely available and can determine iron levels in the blood, which could indicate the disease.
Because the genetic defect for hemochromatosis is more common among Caucasians, there's debate over whether it would be cost-effective to have random genetic testing for the whole white population.
The problem, Cook says, is there is no definitive research on how many people with the hemochromatosis gene go on to get sick with the disease -- "the studies range from a few percent to the majority."
The NIH is now funding two large population studies on this question, but the results won't be available for a few years, he says.
"Until the numbers come through, I don't believe it would be appropriate to randomly screen the whole population," he says.
Krikker says there should at least be screening at clinics that treat the diseases with symptoms that mimic those of hemochromatosis.
"All the clinics that treat diabetes and arthritis should be screening," she says.
In the meantime, both doctors suggest that if you know of any family history of the disease, you should consider being tested. Also, if you are suffering joint disease, heart disease, diabetes, liver disease or impotence, you should talk to your doctor about being tested for hemochromatosis.
What To Do
July is Hemochromatosis Screening Awareness Month.