The culprit for such otherwise unexplained symptoms as fatigue, joint pain and infertility issues could be hemochromatosis, characterized by iron overload in the blood. Over time, the toxic effects of the excess iron can lead to damaging diseases like diabetes, congestive heart failure and endocrine system problems.
“Hemochromatosis is probably the most common disease you’ve never heard of,” said Dr. Mark Wurster, a hematologist at OSU Medical Center. “It’s probably the single most common genetic disorder in the American population, but it’s grossly underrecognized and grossly undertreated.”
An estimated one in 10 Americans carry the genetic trait for hemochromatosis, and about one in 250 are considered at highest risk because they carry the genetic trait from both parents.
Because early signs of the disease mimic numerous other disorders, Wurster and colleagues are pursuing more frequent screenings for hemochromatosis, especially among family members of patients diagnosed with the disease.
“The sad fact is physicians don’t tend to look for the majority of cases before there’s a clear reason to look, which means preventable disease might be missed,” Wurster said. “If we can catch people before they manifest complications from hemochromatosis, we can treat them with very low-tech, very cheap and very safe methods, prevent complications and allow them to lead a perfectly normal life.”
The treatment – regularly scheduled donations of a unit of blood to eliminate excess iron in the body – has the added bonus of contributing to the community blood supply, he noted.
A telltale sign of the disease is skin that has turned bronze, an indication of iron accumulation in the skin that points to the onset of “bronze diabetes,” an insulin-dependent form of diabetes. But that damaging disorder, as well as congestive heart failure and other complications, can surface up to 10 or 15 years after onset of hemochromatosis. As the excess iron accumulates, its toxic effects can lead to scarring and inflammation in organ systems.
“We’re emphasizing trying to recognize the possibility of hemochromatosis at the earliest point possible to prevent irreversible complications of the disease,” Wurster said. “We’re also just trying to raise awareness in the community about how common the disease is and how easy it is to keep people out of trouble.”
A simple blood test to detect iron levels followed by a genetic assay can be used to detect the disease. Wurster is leading an initiative at OSU Medical Center to increase patient convenience through the availability of one-stop testing, treatment and referral options for common disorders, including hemochromatosis.