Inherited Liver Diseases (cont.)

How Is Alpha-1 Anti-Trypsin Deficiency Diagnosed and Treated?

Physical signs, such as a barrel-shaped chest and respiratory problems, may 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 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 anti-trypsin 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.

What Is the Prognosis for People With Inherited Liver Diseases?

With proper treatment, hemochromatosis and alpha-1 anti-trypsin 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.

Reviewed by The Cleveland Clinic Department of Gastroenterology.
Edited by Charlotte E. Grayson, MD, WebMD, April 2004.

WebMD Medical Reference

Last Editorial Review: 1/31/2005

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