The two most common inherited liver diseases are hemochromatosis, and alpha-1 anti-trypsin 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 the most commonly inherited disease in the United States. When one family member has this disorder, siblings, parents, and children should also be tested.
A secondary form of hemochromatosis is not genetic and is caused by other diseases such as thalassemia, certain types of anemia, and severe alcoholism.
Hemochromatosis affects men five times more often than it does women, especially those of Western European descent. Iron accumulates very poorly. It takes many years for enough iron to accumulate and cause organ damage. 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:
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Joint pain
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Fatigue
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Unexplained weight loss
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A darkening of the skin frequently referred to as "bronzing"
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Abdominal pain
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Loss of sexual desire
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Diabetes
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Heart disease
Hemochromatosis affects the body by causing excess iron to build up in the liver, causing the liver to become enlarged. The disease then affects other organs and can lead to many complications including diabetes, liver cancer, heart problems, cirrhosis, testicular atrophy (wasting away), and chronic abdominal pain.
How is hemochromatosis diagnosed and treated?
Whenever hemochromatosis is suspected, a blood test and liver biopsy will confirm the diagnosis.
Treating hemochromatosis is aimed at removing excess iron from the body, as well as attempting to reduce any symptoms or complications that have resulted from the disease. A physical examination might be completely normal, or show signs of liver enlargement or skin pigmentation.
Excess iron is removed from the body in a procedure called phlebotomy. During this procedure, 1/2 liter of blood is 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 to keep iron levels in their normal limits. This frequency varies based on individual circumstances. To help keep iron levels down, patients with hemochromatosis need to avoid iron, most commonly found in vitamin preparations. If you have hemochromatosis, your doctor or dietitian will advise and help you put together a diet that is right for you. It is usually recommended that you avoid alcohol.
When liver damage from hemochromatosis has resulted in cirrhosis, the risk of liver cancer is very high. When this is the case, screening for cancer by ultrasound or other scanning tests is usually done on a regular basis.
Alpha-1 anti-trypsin deficiency
This inherited liver disease is one in which an important liver protein, known as alpha-1 anti-trypsin, is either lacking or exists in lower than normal levels in the blood. Patients with alpha-1 anti-trypsin deficiency are able to produce this protein. The disease, however, prevents it from entering the bloodstream and, instead, it accumulates in the liver.
The alpha-1 anti-trypsin protein’s job is to help protect the lungs from being damaged by naturally occurring enzymes. When this protein is too low or non-existent, the lungs become damaged, leading to difficulty breathing and — in 75 percent of the cases — leading to emphysema. Patients with this disease are also at risk of developing the liver disease 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. These include, shortness of breath or wheezing. Patients might also have unexplained weight loss and a barrel-shaped chest, which is commonly associated with the presence of liver disease. As this disease progresses, symptoms typical of emphysema or cirrhosis might appear. These include:
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Fatigue
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Chronic cough
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Swelling of the ankles and feet
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Jaundice
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Nausea
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Vomiting
How is alpha-1 anti-trypsin deficiency diagnosed and treated?
Physical symptoms such as a barrel-shaped chest and respiratory problems might lead your doctor to suspect alpha-1 anti-trypsin deficiency. A blood test that tests specifically for the alpha-1 anti-trypsin protein will help confirm the diagnosis.
There is no established treatment for alpha-1 anti-trypsin deficiency. Alpha-1 anti-trypsin deficiency can be treated by replacing the protein in the bloodstream. However, experts are not clear on how effective this technique is or for which patients the technique would be most beneficial. Other approaches to treating alpha-1 anti-trypsin deficiency involve treating the complications such as emphysema and cirrhosis.
These approaches include antibiotics to combat respiratory infections, bronchodilators to help patients breathe easier, and diuretics and other measures to reduce any fluid build up in the abdomen. Personal behavior can also help keep symptoms and complications from becoming severe. This includes avoiding alcohol, quitting smoking, and eating a healthy diet. Your doctor or dietitian can recommend a diet that is right for you.
Because the disease affects your lungs, you are more prone to getting respiratory infections. Therefore, you might want to consider getting both flu and pneumonia vaccinations to help protect against these infections. If you feel you are developing a cold or cough, contact your doctor so treatment can begin as soon as possible. Occasionally, the lungs or liver deteriorates despite treatment. In such cases, transplantation might be advised.
What is the outlook for inherited liver diseases?
With proper treatment, hemochromatosis and alpha-1 anti-trypsin deficiency disease are usually not fatal. However, complications associated with these diseases can be, which is why it is very important that you take steps to lead as healthy a lifestyle as possible. Emphysema, cirrhosis, diabetes, and many other diseases associated with inherited liver diseases are progressive and need to be controlled as much as possible in order to lead a productive and happy lifestyle.
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 1/1/2004
