Hemochromatosis

By Stephen Holt, MD, PhD, FACP

• What is Hemochromatosis?
• Causes
• Symptoms
• How is it Diagnosed?
• Treatment
• Suggested Articles

What is Hemochromatosis?

Hemochromatosis (also known as hereditary hemochromatosis) is an inherited condition in which the body absorbs and stores more iron than it needs. The excess iron comes from foods you eat. Over time, the extra iron can build up in several organs, including your heart, liver and pancreas. If the overabundant iron remains untreated, it can lead to organ damage, including complications with your heart and liver.

Juvenile hemochromatosis and neonatal hemochromatosis are two forms of the disease that are not caused by a genetic defect. Their cause is unknown.

Causes

Hemochromatosis is a common genetic disorder in the United States. Even though the genetic defect is present at birth, symptoms rarely appear before adulthood – usually between the ages of 30 and 50 in men and after age 50 in women.

Symptoms

While there are people with hemochromatosis who never have symptoms, some people, on other hand, experience a wide range of problems. Complications can vary from person to person and may also be different for men and women. Furthermore, women are more likely to develop symptoms after menopause, when they no longer lose iron with menstruation and pregnancy.

All encompassing symptoms may include:

• Joint pain
• Fatigue
• Abdominal pain
• Weakness
• Weight loss
• Loss of sex drive (libido) or impotence
• Lack of normal menstruation (amenorrhea)
• Loss of body hair
• Shortness of breath
• Arthritis
• Liver problems, such as cirrhosis (or scarring of the liver) and liver cancer
• High blood sugar and diabetes
• Heart problems (i.e., irregular heart beat)
• Heart failure
• Gray-colored or bronze-colored skin

How is its Diagnosed?

Since some people never show symptoms, it is likely that a person will find that they have elevated liver enzyme levels. Blood tests can be conducted specifically to screen for hemochromatosis.

Treatment

In order to treat hemochromatosis, a person will need to undergo a safe and simple process called therapeutic phlebotomy. Therapeutic phlebotomy is a means to remove blood and rid the body of excess iron. On their own, our bodies have a limited ability to eliminate excessive amounts of iron.

• To start, a pint of blood will be taken once or twice a week for several months to a year, sometimes longer.
• Next, once the goal of returning iron levels to normal is achieved, maintenance therapy begins. Maintenance therapy entails giving a pint of blood every two to four months for life. It’s possible that some people may need it more often.

For those that cannot have routine blood remove, iron chelation is an option whereby medication is used to remove excess iron from the body.

Additionally, a doctor may recommend dietary changes to limit the intake of iron through your food, limit the use of vitamin C which helps your body absorb iron from food, and limit alcohol since it increases the risk of liver disease.

This information is intended for educational purposes only and should not be used in any other manner. This information is not intended to substitute for informed medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified health care provider.

Suggested Articles

• What You Must Know About Alcoholic Hepatitis

About the Author

Stephen Holt, MD, PhD, FACP

Stephen Holt, M.D. is a Distinguished Professor of Medicine NYCPM (Emerite) and a medical practitioner in New York State. He has published many peer-review papers in medicine and he is a best-selling author with more than twenty books in national and international distribution. He has received many awards for teaching and research. Dr. Holt is a frequent lecturer at scientific meetings and healthcare facilities throughout the world. He is a best selling author and the founder of the Holt Institute of Medicine.