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Inherited Liver Diseases

The two most common inherited liver diseases are hemochromatosis and alpha-1 antitrypsin deficiency.

Hemochromatosis

Hemochromatosis is a disease in which deposits of iron collect in the liver and other organs. The primary form of this disease is one of the most common inherited diseases in the U.S. -- 10% of the population has the disease, many unknowingly. When one family member has this disorder, siblings, parents, and children are also at risk.

A secondary form of hemochromatosis is not genetic and is caused by other diseases, such as thalassemia, a genetic blood disorder that causes anemia.

The iron overload associated with hemochromatosis affects men five times more often than it does women. Because women lose blood through menstruation, women are unlikely to show signs of iron overload until 10 or more years after menopause. Hemochromatosis is more common in people of Western European descent.

What Are the Symptoms of Hemochromatosis?

The symptoms of hemochromatosis include:

  • Liver disease
  • Joint pain
  • Fatigue
  • Unexplained weight loss
  • A darkening of the skin frequently referred to as "bronzing"
  • Abdominal pain
  • Loss of sexual desire

People with hemochromatosis may also have signs of diabetes and heart disease and may also develop liver cancer, cirrhosis, testicular atrophy (wasting away), and infertility.

How Is Hemochromatosis Diagnosed and Treated?

Whenever hemochromatosis is suspected, a blood test to look for excess iron in the blood is performed. If excess iron is found, a genetic blood test (hemochromatosis DNA test) is performed. The genetic test is also used to screen family members of patients with a positive genetic test. The goal of treatment is to remove excess iron from the body, as well as reduce any symptoms or complications that have resulted from the disease.

Excess iron is removed from the body in a procedure called phlebotomy. During the procedure, one-half liter of blood is removed from the body each week for a period of up to two or three years until the iron buildup has been reduced.

After this initial treatment, phlebotomies are needed less frequently. The frequency varies based on individual circumstances.

To help keep iron levels down, people with hemochromatosis should avoid iron, most commonly found in vitamin preparations. If you have hemochromatosis, your health care provider or a dietician can put together a diet that is right for you. Most people with hemochromatosis should avoid alcohol.

If hemochromatosis has caused cirrhosis, the risk of liver cancer becomes higher. As a result, screening for cancer should be performed on a regular basis.

Alpha-1 Antitrypsin Deficiency

In this inherited liver disease an important liver protein known as alpha-1 antitrypsin is either lacking or exists in lower than normal levels in the blood. People with alpha-1 antitrypsin deficiency are able to produce this protein; however, the disease prevents it from entering the bloodstream and it instead accumulates in the liver.

Alpha-1 antitrypsin protein protects the lungs from damage due to naturally occurring enzymes. When the protein is too low or non-existent, the lungs can become damaged, leading to difficulty breathing and, in about 75% of the people with the condition, emphysema. People with this disease are also at risk of developing cirrhosis.

WebMD Medical Reference

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