What's All The Fuss About Hemochromatosis?
by Beth A. Pletcher, MD, September 1998

Practically every journal these days has published an article touching on the clinical significance of hemochromatosis. Where did this disorder come from and what is the clinical relevance to the practice of adult medicine? The truth of the matter is that this disorder has been around forever, but just recently has come into the "spotlight" as a contributing factor for some cases of cirrhosis, diabetes and cardiomyopathy. This is compounded by the fact that early diagnosis and treatment can alter the course of the disease so the astute clinician can actually prevent long term morbidity and mortality! Here are a few fun facts about hemochromatosis:

• It is caused by increased iron absorption from the GI tract and affects about one in 200 to 400 people.

• At risk individuals can often be identified by abnormal serum iron studies with a persistently elevated transferrin saturation as the most sensitive test (transferrin saturation = serum iron/TIBC X100). An elevated serum ferritin would point to increased iron stores and a liver biopsy with increased hepatic iron confirms this diagnosis. (Gene testing may be preferable to a liver biopsy in the case of a suspected diagnosis made by serum iron levels).

• This is an autosomal recessive condition with one in ten of us carrying the gene silently. Affected individuals get a "double dose" of the altered gene. The two mutations in the HFE gene that have been identified are responsible for 79-96% of the cases of hemochromatosis.

• Men fare less well than women with this disorder presumably because of women's iron losses through menstruation and pregnancy. Women are less likely to be symptomatic and also less likely to develop cirrhosis than their male counterparts.

• Clinical symptoms are nonspecific leading to delay in or failure to diagnose and treat this condition. Early symptoms may include fatigue, arthralgias, abdominal pain, irregular menstrual cycles, bronze skin discoloration or impotence. This diagnosis should be considered in any patient with idiopathic cirrhosis, diabetes or unexplained cardiomyopathy. Mortality is associated with congestive heart failure, complications of diabetes, liver failure or primary liver cancer.

• Treatment consists of serial phlebotomy to decrease iron stores with hemoglobin and serum ferritin serving as markers of successful treatment in addition to improvement in clinical symptomatology.