There are two most common types of inherited liver diseases. They are hemochromatosis and alpha-1 antitrypsin deficiency. If your doctor diagnosed you to have one of these inherited liver diseases, you and your family should learn more about these diseases. When you have knowledge about your disease, you may control and be more self-motivated in your treatment process and help your relatives prevent the risk at this disease.

About hemochromatosis

What is 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.  The morbidity is up to one in every 200 people has the disease. When a person in your family has this disorder, other people 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. That means that the men in your family are higher at risk for this disease. 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
  • 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 develop liver cancer, cirrhosis, testicular atrophy (wasting away), and infertility.

How is hemochromatosis diagnosed and treated?

If you suspect that you get hemochromatosis, you will have a blood test in the hospital to look for excess iron in your blood. If excess iron is found in your body, a genetic blood test (hemochromatosis DNA test) may be ordered. The genetic test is also used to screen your family members with a positive genetic test. The goal of treatment is removing excess iron from your 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,  liter of blood is removed from your body every 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, you 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. Besides, you should also avoid alcohol.

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

About Alpha-1 Antitrypsin Deficiency

What is the alpha-1antitrypsin deficiency?

In this type of inherited liver disease, a significant 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?

You will feel shortness of breath or wheezing when you get alpha-1 antitrypsin because they are the first symptoms of its effects on your lung. You can also experience unexplained weight loss and a barrel-shaped chest, which is commonly associated with the presence of emphysema. They are also signs of the condition. As the disease progresses, symptoms typical of emphysema or cirrhosis include:

  • Fatigue;
  • Chronic cough
  • Swelling of the ankles and feet;
  • Jaundice (yellowing of the skin);
  • Fluid in the abdomen (ascites).

If you have some physical signs such as a barrel-shaped chest and respiratory problems, your doctor may suspect you have alpha-1 antitrypsin deficiency. So, your doctor may make a blood test for you. It tests specifically for the alpha-1 antitrypsin protein and it will help you confirm the diagnosis.

How is alpha-1 antitrypsin deficiency diagnosed and treated?

There is no established treatment to cure alpha-1 antitrypsin deficiency but replacing the protein in the bloodstream can treat you. 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 medication to reduce any fluid buildup in the abdomen.

You should avoid alcohol, quit smoking, and eat a healthy diet. These personal behaviors can help you 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, the doctor may recommend both flu and pneumonia vaccinations to help you prevent these infections. If you feel you are developing a cold or a cough, contact your health care provider immediately so treatment can begin as soon as possible. Occasionally, the lungs or liver deteriorates 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.

Hello Health Group does not provide medical advice, diagnosis or treatment.

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