Inherited Liver and Lung Disease

Alpha-1 antitrypsin (AAT) is a protein that is made by your liver and released into your bloodstream where it protects your lungs. Alpha-1 antitrypsin deficiency Lung Disease occurs when your liver does not secrete enough AAT and you are at risk of developing chronic obstructive pulmonary disease (COPD). In addition the collection of the protein in the liver can lead to liver disease and cirrhosis.

Alpha-1 Deficiency is an inherited condition. In most cases severe lung or liver disease does not appear unless both your parents carry the abnormal AAT gene.

Symptoms, Diagnosis and Outlook

Symptoms of Alpha-1 deficiency (AATD) include:

• Shortness of breath with or without exertion
• Jaundice of the skin and eyes that does not get better
• Unexplained weight loss
• Wheezing
• Dark urine or pale stools

If you have COPD, asthma with fixed lung disease, liver disease or a family history of Alpha-1 deficiency, talk to your doctor about screening for the disease. Early intervention is the key to preventing severe lung and liver disease.

Diagnosis starts with a physical examination to assess whether you have a barrel-shaped chest, wheezing or the decreased breath sounds that accompany Alpha-1 deficiency.

Additional testing may include:

• AAT blood test
• Liver Function Testing
• Lung function test
• Chest X-ray
• CT scan of your chest
• Genetic testing

With early diagnosis and proper treatment, many people with Alpha-1 deficiency will not develop lung or liver disease. In severe cases, the condition can cause COPD, damage to your airways and liver failure.

Why Choose Penn State Health for Care?

Penn State has experts in lung and liver care for AATD and an Alpha-Center to coordinate care, ensure preventative medicine and direct care to appropriate health care providers. Our Thoracic Surgery Department and Invasive Pulmonary Section are available for consultation and procedures when indicated. The “Center” treats each patient in a holistic fashion, meaning as a whole person, and not as a symptom or organ dysfunction.  We focus to keep you healthy and to be all you are capable of being.

Innovation Through Research

Penn State Health includes the Milton S. Hershey Medical Center, the only academic medical center in central Pennsylvania. In partnership with colleagues at Penn State College of Medicine, Hershey Medical Center is a national leader in research and on the leading edge of new treatment, including clinical trials.

To view all our active clinical trials and learn how to participate, visit Studyfinder.

Support Groups

We are associated with an active Alpha-1 support group funded and sponsored by the Alpha-1 Foundation.

View All Support Groups