_The two most common genetic inherited liver diseases are hemochromatosis and alpha-1 antitrypsin deficiency. There are a few other liver diseases that are classified as genetic such as Gilbert's Syndrome. With proper treatment, hemochromatosis and alpha-1
antitrypsin deficiency disease are usually not fatal. However,
complications associated with the diseases can be. It is very important
that people with inherited liver diseases do all they can to stay
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. 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:
Unexplained weight loss
A darkening of the skin frequently referred to as "bronzing"
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 is performed. If excess iron is found, a genetic test (hemochromatosis DNA test, done on blood) 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 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 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.
What Are the Symptoms of Alpha-1 Antitrypsin Deficiency? The first symptoms of alpha-1 antitrypsin 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 emphysema, are also signs of the condition. As the disease progresses, symptoms typical of emphysema or cirrhosis may appear, and include:
Swelling of the ankles and feet
Fluid in the abdomen (ascites)
How Is Alpha-1 Antitrypsin Deficiency Diagnosed and Treated? Physical signs, such as a barrel-shaped chest and respiratory problems, may lead your doctor to suspect alpha-1 antitrypsin deficiency. A blood test that tests specifically for the alpha-1 antitrypsin protein will help confirm the diagnosis.
There is no established treatment to cure alpha-1 antitrypsin deficiency but it can be treated by replacing the protein in the bloodstream. However, experts are not clear on how effective this technique is and who should receive it. Other approaches to treating alpha-1 antitrypsin deficiency involve treating the complications such as emphysema and cirrhosis. This includes antibiotics to combat respiratory infections, inhaled medication to make breathing easier, and diuretics and other measures to reduce any fluid build up in the abdomen.
Personal behavior, such as avoiding alcohol, quitting smoking, and eating a healthy diet, can also help keep symptoms and complications from becoming severe. Your doctor or dietitian can recommend a diet that is right for you.
Because the disease affects the lungs, people with the condition are more prone to respiratory infections. Therefore both flu and pneumonia vaccinations are recommended to help prevent 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, liver transplantation may be advised.
Gilbert's syndrome (GS) Also called Gilbert-Meulengracht syndrome, GS is an increase in the bilirubin (hyperbilirubinemia) caused by a hereditary "disease" in which there is reduced activity by a certain enzyme that normally coagulates bilirubin. Coagulated bilirubin is then water-soluble, after which it is excreted as bile. Mild rises in bilirubin caused by GS can result in mild jaundice, found in about 5% of the population. Levels of bilirubin in GS patients are reported to be from 1.2 to 5.3 mg/dL. GS patients will have a ratio of unconjugated/conjugated (indirect/direct) bilirubin that is commensurately higher than those without GS are. While GS itself is considered harmless, it is clinically important because it may give rise to a concern about a blood or liver condition, which could be more dangerous.