Q: My uncle was diagnosed with too much iron in his liver, and said I should get checked. What is this?
 
A: Some of the body’s total stores of iron are lost in the cells of desquamated skin, secretions in the gastrointestinal tract and skin, a small amount in the urine and from any blood loss (for example during a women’s periods), for a total average loss of about 1 mg of iron per day and up to 2 mg in premenopausal women. To maintain sufficient iron (crucially needed to make new red blood cells), our bodies regulate how much iron is absorbed from the food we eat. Usually about 10 percent of the ingested iron is absorbed, and this is enough to keep us in balance. For people with increased losses (such as women with heavy menstrual periods), iron supplements may be needed. If we eat too much iron the body’s normal response is to absorb less, keeping our iron stores at healthy levels.
 
People with the condition called hemochromatosis have abnormal iron regulation. They absorb too much iron, as high as 30 percent or more of the iron ingested, and the mechanism to decrease their iron absorption once they have sufficient iron stores does not function correctly, causing an overall iron overload.
 
Hemochromatosis is the most common autosomal recessive genetic disorder, meaning a copy of the abnormal gene (there are two different mutations identified that can cause this condition) must be inherited from each parent in order to develop the disease, and it is also the most commonly inherited liver disorder in Caucasians. Overall, about one in ten Americans are a carrier of the gene for this condition and about one in 250 are clinically affected by it (having inherited a copy of the gene from both parents, which is a one in 100 chance since there is a one in ten chance for each parent having the gene, and then factoring in that only some of the people who do inherit the gene from both parents manifest the clinical condition).
 
Most patients (75 percent) with hemochromatosis have no symptoms (especially at younger ages). The symptoms that may develop are caused by iron deposition is specific organs and/or body tissues that may cause organ/tissue dysfunction. For example, patients may develop an enlarged liver and/or spleen (hepatosplenomegaly), liver function compromise, thyroid dysfunction, joint issues (including joint pain and/or inflammation), changes in skin color, heart failure, diabetes mellitus (from pancreatic involvement), reproductive system changes (for example impotence in men or amenorrhea in women), as well as non-specific symptoms such as fatigue, weakness, hair loss, and other symptoms.
 
The diagnosis of hemochromatosis may be suspected based on symptoms, a family history of the disease, or triggered by an abnormal blood test done for some other reason (for example from an elevated blood iron level done on a routine blood screening test).
 
The first step in diagnosing hemochromatosis is evaluating specialized blood tests which look for iron levels as well as levels of certain proteins that store and transport iron in the body. Genetic testing may be indicated in some patients. Other tests may be indicated depending on which organ systems are suspected to be involved. These may include further blood tests (for example liver function tests, others), certain imaging tests (such as a heart ultrasound, CT, MRI, other), and even a liver biopsy (which may be recommended depending on the results of the other testing).
 
The treatment for hemochromatosis is aimed at removing iron from the patient’s body. This is most easily done by phlebotomy (removing some of the patient’s blood) since red blood cells contain a lot of the body’s iron (I have wondered if the history of ‘blood-letting’ as a treatment is in any way related to the disease hemochromatosis). In patients with hemochromatosis but with anemia (low blood count), phlebotomy may not be a viable option, and for these patients there are certain medications that may bind to iron to enable it to be excreted in the patient’s urine.
 
Complications from hemochromatosis occur primarily from damage to organs and/or tissues from iron overload. Early diagnosis and initiation of treatment can prevent this organ/tissue damage. Hence it is important that people with risk factors (such as a family history of the condition or symptoms suggestive of it) are tested. With early detection and treatment hemochromatosis patients may live a normal lifespan without significant complications from their condition.
 
Jeff Hersh, Ph.D., M.D., can be reached at DrHersh@juno.com