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Overview

Alpha-1 antitrypsin deficiency (Alpha-1) is a hereditary genetic disorder which may lead to the development of lung and/or liver disease. It is the most common genetic cause of liver disease in children. Adults can also be affected by Alpha-1 and may develop lung conditions such as emphysema and liver problems. Fortunately, many people diagnosed with Alpha-1 never develop any of the associated diseases.

Facts at-a-Glance

This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry.
Some people with Alpha-1 Antitrypsin Deficiency are misdiagnosed with asthma.
Approximately 15% of adults with Alpha-1 Antitrypsin Deficiency develop liver damage (cirrhosis) due to the formation of scar tissue in the liver.

Symptoms and Causes

Some people with Alpha-1 may not experience any symptoms and others may experience serious effects of the disease. Serious effects of the disease include shortness of breath, wheezing, chronic cough, and fatigue.

In newborns, the typical symptoms of Alpha-1 are jaundice, swelling of the abdomen, and poor feeding. Alpha-1 may also appear in late childhood or adulthood and be detected because of fatigue, poor appetite, swelling of the abdomen and legs, or abnormal liver tests.

Alpha-1 antitrypsin is an inherited disorder. Alpha-1 is a protein made in the liver which plays an important role in preventing the breakdown of enzymes in various organs. Individuals with Alpha-1 have a genetic disorder that prevents their body from creating enough of this protein. This trait must be inherited from both parents (who are, by definition, carriers) to cause the disorder.

Diagnosis and Tests

The diagnosis of Alpha-1 is made by blood tests showing the low levels of alpha-1 antitrypsin and abnormal liver tests. Other tests, such as ultrasound imaging or tests using specialized X-ray techniques, may be necessary. A liver biopsy may be performed to check for damage to the liver.

How is Alpha-1 Antitrypsin Deficiency treated?

Management and Treatment

Currently, there is no cure for Alpha-1. Treatment is designed to maintain normal nutrition, to provide the liver and the body with essential nutrients, and to identify complications early in order to treat them better. Multiple vitamins and vitamins E, D, and K are often given. Certain abnormalities can be treated or controlled. Jaundice, severe itching, and fluid retention can all be dealt with through medication.

Prevention

There is no known way to prevent autoimmune liver diseases, but knowledge of family history and genetic testing can reduce the risk of developing this condition.

Worldwide, approximately 1 in 2,500 individuals has Alpha-1 Antitrypsin Deficiency. This disorder is found in all ethnic groups; however, it occurs most frequently in whites of European ancestry.

Outlook / Prognosis

People with Alpha-1 can live a normal life as long as they do not smoke, eat a well-balanced diet and exercise. Routine testing will also be needed to monitor any change in health status, especially to the heart, lungs, and liver.

We encourage adults living with Alpha-1 to visit our Clinical Trials page to learn more about opportunities in their area.

Living With

Alpha-1 can affect people differently, but overall, those with this condition must protect themselves from whatever may negatively affect their lungs or liver.

Questions to Ask Your Doctor

Have you ever treated someone with this liver disease before?
Since Alpha 1 is genetic, should my children be tested?
Do I have liver damage?
Will I need a liver transplant?
Should I see a specialist to check my pulmonary functions?
Should I see a specialist to check my cardiac health?
Will I need augmentation therapy?
What kinds of foods would best help my liver?
Can you help me quit smoking?
Are there any clinical trials available for my liver disease?

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Search for a Clinical Trial

Clinical trials are research studies that test how well new medical approaches work in people. Before an experimental treatment can be tested on human subjects in a clinical trial, it must have shown benefit in laboratory testing or animal research studies. The most promising treatments are then moved into clinical trials, with the goal of identifying new ways to safely and effectively prevent, screen for, diagnose, or treat a disease.

Speak with your doctor about the ongoing progress and results of these trials to get the most up-to-date information on new treatments. Participating in a clinical trial is a great way to contribute to curing, preventing and treating liver disease and its complications.

Start your search here to find clinical trials that need people like you.

Last updated on April 4th, 2025 at 04:02 pm