Digestive Diseases: Inherited Liver Diseases

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


Hemochromatosis is a disease in which deposits of iron collect in the liver and other organs. The primary form of this disease is the most common inherited disease in the U.S. 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) and severe alcoholism.

Hemochromatosis affects men five times more often than it does women, especially those of Western European descent. Because women lose blood through menstruation, women are unlikely to show signs of iron overload until 10 or more years after menopause.

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 chronic abdominal pain.

How Is Hemochromatosis Diagnosed and Treated?

Whenever hemochromatosis is suspected, a blood test to look for excess iron in the blood and a liver biopsy are performed.

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 are removed from the body each week for a period of two to three years or until the iron build up 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 need to avoid iron, most commonly found in vitamin preparations. If you have hemochromatosis, your doctor or dietitian will put together a diet that is right for you. Alcohol avoidance is usually recommended.

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 Anti-Trypsin Deficiency

In this inherited liver disease an important liver protein known as alpha-1 anti- trypsin, is either lacking or exists in lower than normal levels in the blood. People with alpha-1 anti-trypsin 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 anti-trypsin 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 75% of the people with the condition, emphysema. People with this disease are also at risk of developing cirrhosis .

What Are the Symptoms of Alpha-1 Anti-Trypsin Deficiency?

The first signs of alpha-1 anti-trypsin deficiency will usually be symptoms of its effects on the lungs, including shortness of breath or wheezing. Unexplained weight loss and a barrel-shaped chest, which is commonly associated with the presence of liver disease, are also signs of the condition. As the disease progresses, symptoms typical of emphysema or cirrhosis may appear, and include:

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