The two most common inherited liver diseases are hemochromatosis and alpha-1 antitrypsin deficiency.
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. -- up to one in every 200 people 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 more often than it does women. Because women lose blood through menstruation, women are unlikely to show signs of iron overload until after menopause. Hemochromatosis is more common in people of Western European descent.
What Are the Symptoms of Hemochromatosis?
The symptoms of hemochromatosis may include:
- Liver disease
- Joint pain
- 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) may be ordered. 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.
Another treatment for hemochromatosis is iron chelation therapy. Iron chelation uses medicine to remove excess iron from your body, and it is a good option for people who can't have routine blood removal.
The medicine used in iron chelation therapy is either injected or taken orally (by mouth). Injected iron chelation therapy is done at a doctor's office. Oral iron chelation therapy can be done at home.
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 dietitian 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 many 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, can also be signs of the condition. As the disease progresses, symptoms typical of emphysema or cirrhosis include:
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 of emphysema and cirrhosis. This includes antibiotics to combat respiratory infections, inhaled medication to make breathing easier, and diuretics and other medication to reduce any fluid buildup 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 health care provider 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 health care provider immediately so treatment can begin as soon as possible. Occasionally, the lungs or liver deteriorate despite treatment. In such cases, a liver transplant may be needed.
What Is the Prognosis for People With Inherited Liver Diseases?
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 healthy.