Hemochromatosis

Causes and Risks:
Hemochromatosis is caused by a primary genetic defect or secondary to diseases such as thalassemia or sideroblastosis. It may also be caused by multiple blood transfusions.

First, excess iron accumulates in the liver and causes liver enlargement . Then, other organs become affected. The disease may lead to the development of diabetes , skin pigment changes, cardiac problems, arthritis , and testicular atrophy.

It affects men more frequently than women and occurs most often in people 40 to 60 years old. Rare cases have occurred in childhood. Alcoholism and a family history of hemochromatosis are risk factors. The incidence is 6 out of 100,000 people.

Prevention:
Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred.

Symptoms:



Signs and Tests:
A physical examination shows an enlarged liver , enlarged spleen , and pigmentation changes in the skin.

This disease may also alter the following test results:



Treatment:
The goal of treatment is to remove excess iron from the body and to give supportive treatment to damaged organs.

Iron removal is achieved by removing 1/2 liter of blood from the body each week for 2 to 3 years until the iron stores in the body are depleted. After that, less frequent removal of blood is needed to maintain iron levels within normal limits.

Loss of sexual desire and change in secondary sexual characteristics are improved with testosterone therapy.

Management of diabetes , arthritis , liver failure, and heart failure associated this condition, are the same as conventional treatments for these problems.

Prognosis:
Life expectancy is increased by 8 years or more with treatment, which improves the enlarged liver and spleen, skin pigmentation changes, and cardiac failure . Arthritis and testicular atrophy are not affected by treatment. Liver cirrhosis is irreversible. Early detection and treatment before liver damage has occurred is correlated with a normal life expectancy.

Complications:



Call Your Healthcare Provider:
Call your health care provider if symptoms of hemochromatosis develop.

Call for an appointment with your health care provider (for screening) if a family member has been diagnosed with hemachromatosis.