Disorders Associated with Diabetes
 Symptoms, Diagnosis, Diet, Treatment

Hemochromatosis
Also Known as Iron Overload or Bronze Diabetes

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    What is Hemochromatosis (iron overload or "bronze" diabetes)?

    Hemochromatosis is a disease that causes the body to store excessive amounts of iron in the body.  It is an inherited disorder that can lead to the onset of type 1 diabetes after years of iron overload which can damage the pancreas.    The number of persons with hemochromatosis for those with diabetes is not higher than is seen in the general population but about 40% of those diagnosed with hemochromatosis will also be diagnosed with type 1 diabetes at the same time.  Diabetes did not cause hemochromatosis, but hemochromatosis causes diabetes.  For this reason, this form of diabetes is considered a “secondary” diabetes because it is caused by damage to the pancreas from excessive levels of iron.

    Healthy people usually absorb about 10 percent of the iron contained in the food they eat to meet the body needs. People with hemochromatosis absorb more than the body needs. The body has no natural way to rid itself of the excess iron, so it is stored in body tissues, especially the liver, heart, and pancreas.

    Hemochromatosis is often called “bronze” diabetes because of an accompanying skin discoloration.

    Prevalence

    Hemochromatosis is the most common genetically carried disease (13% of all persons in the U.S. carry the gene) and about 1 in 200 persons has hemochromatosis.  

    Symptoms of Iron Overload

    Symptoms of the disease include, joint pain, thyroid problems, hair loss, bronzing of the skin (hence the term "bronze diabetes), chronic fatigue, diabetes, menstrual irregularities, impotence, abdominal pain, liver disease, and liver or pancreatic cancer.  

    Joint pain is the most common complaint of people with hemochromatosis. Other common symptoms include fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems. Symptoms tend to occur in men between the ages of 30 and 50 and in women over age 50. However, many people have no symptoms when they are diagnosed.      

    Diagnosis

    Diagnosis is made by running a panel of iron tests including serum iron and total iron binding capacity tests.  All persons with diabetes and liver damage should be tested for hemochromatosis.   If tests results indicate a diagnosis of hemochromatosis, iron levels will need to be carefully monitored.  If they reach a dangerous level (excessive iron in the body damages all organs and the brain) the treatment is usually phlebotomy (taking blood out of the body).  Persons with this hemochromatosis may donate blood, sometimes weekly, in order to keep iron levels in check.

    The genetic defect of hemochromatosis is present at birth, but symptoms rarely appear before adulthood. A person who inherits the defective gene from both parents may develop hemochromatosis. A person who inherits the defective gene from only one parent is a carrier for the disease but usually does not develop it. However, carriers might have a slight increase in iron absorption.

    Although both men and women can inherit the gene defect, men are about five times more likely to be diagnosed with the effects of hereditary hemochromatosis than women. Men also tend to develop problems from the excess iron at a younger age.  

    Hemochromatosis is often undiagnosed and untreated. It is considered rare and doctors may not think to test for it. The initial symptoms can be diverse and vague and can mimic the symptoms of many other diseases. Also, doctors may focus on the conditions caused by hemochromatosis—arthritis, liver disease, heart disease, or diabetes—rather than on the underlying iron overload. However, if the iron overload caused by hemochromatosis is diagnosed and treated before organ damage has occurred, a person can live a normal, healthy life.*

    Screening & Tests for Hemochromatosis*

    Screening for hemochromatosis (testing people who have no symptoms) is not a routine part of medical care or checkups. However, researchers and public health officials do have some suggestions:

    • Brothers and sisters of people who have hemochromatosis should have their blood tested to see if they have the disease or are carriers.

    • Parents, children, and other close relatives of people who have the disease should consider testing.

    • Doctors should consider testing people who have joint disease, severe and continuing fatigue, heart disease, elevated liver enzymes, impotence, and diabetes, because these conditions may result from hemochromatosis.

    Since the genetic defect is common and early detection and treatment are so effective, some researchers and education and advocacy groups have suggested that widespread screening for hemochromatosis would be cost-effective and should be conducted. However, a simple, inexpensive, and accurate test for routine screening does not yet exist, and the available options have limitations. For example, the genetic test provides a definitive diagnosis, but it is expensive. The blood test for transferrin saturation is widely available and relatively inexpensive, but it may have to be done twice with careful handling to confirm a diagnosis and to show that it is the consequence of iron overload..

    Treatment

    Hemochromatosis is usually treated by a specialist in liver disorders (hepatologist), digestive disorders (gastroenterologist), or blood disorders (hematologist). Because of the other problems associated with hemochromatosis, several other specialists may be on the treatment team, such as an endocrinologist, cardiologist, or rheumatologist. Internists or family practitioners can also treat the disease.*

    Treatment involves removing excess iron from the body and to give supportive treatment to damaged organs.  Excess iron is removed through phlebotomy (removal of blood). One-half liter of blood is removed from the body each week for 2 to 3 years until the iron stores are depleted. After that, less frequent phlebotomy is needed to maintain iron levels within normal limits. How often additional phlebotomy will be required depends on levels of hemoglobin, serum ferritin (iron), and patient symptoms.  Persons with hemochromatosis must follow a special low-iron diet and there is cure for hemochromatosis.

    The loss of sexual desire and change in secondary sexual characteristics are improved with
    testosterone therapy.  And management of diabetes, arthritis, liver failure, and heart failure associated with this condition are the same as conventional treatments for these problems.

    According to Mosby's Drug Consultant, ..."On November 3, 2005, pharmaceutical company Novartis announced the approval of Exjade (deferasirox) by the US Food and Drug Administration (FDA). Exjade, the first once-daily oral iron chelator, has been approved for the treatment of chronic iron overload due to blood transfusions in adults and children aged 2 years and older..."  Read the Article   http://www.mosbysdrugconsult.com/DrugConsult/newapp2005.html#OralIronChelatorGivesPatientsNewOption

    Special Diet

    Persons with hemochromatosis must follow a special diet to help maintain a lower serum ferritin.  A low-iron diets does not substitute or replace the need for phlebotomy.  A diet for hemochromatosis  prohibits alcohol (especially for patients who have suffered liver damage.), avoidance of all iron supplements or vitamins containing iron, vitamin supplements, iron cookware, ingesting raw seafood or fortified processed foods such as 100% iron breakfast cereals.

    Prognosis

    The sooner a diagnosis of hemochromatosis is made, the more favorable the long-term outcome for the patient.  If treatment beings prior to complications (organ damage) many problems associated with hemochromatosis can often be avoided.  Even if some organ damage has occurred, it may be able to be reverse or minimized the impact by early detection and treatment.  

    If the disease is not detected early and treated, iron may accumulate in body tissues and may eventually lead to serious problems such as*:

    • Arthritis
    • Liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure
    • Damage to the pancreas, possibly causing diabetes
    • Heart abnormalities, such as irregular heart rhythms or congestive heart failure
    • Impotence
    • Early menopause
    • Changes in secondary sex characteristics; loss of sexual desire
    • Abnormal pigmentation of the skin, making it look gray or bronze
    • Thyroid deficiency
    • Damage to the adrenal gland
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    Sources
    *  National Digestive Information Clearhouse, excerpts from NIH Publication No. 05–4621, December 2004, with permission

    University of Maryland Medical Center