Alpha-1 Antitrypsin Deficiency


What is Alpha-1 antitrypsin deficiency ?

Alpha-1 antitrypsin deficiency is an inherited genetic condition in which patients are at an increased risk for liver and lung disease. The disease occurs when the body cannot properly produce the Alpha-1 Antitrypsin (AAT) protein. This protein is largely produced in the liver where it is then transported to the lungs. In the lungs, its purpose is to protect the delicate lungs from inflammation form inhaled irritants and infections. Patients with Alpha-1 antitrypsin deficiency produce an abnormal version of the AAT protein which cannot be properly transported out of the liver. The improper transport results in levels of AAT in the blood which are not sufficient to protect the lungs. The protein that cannot exit the liver builds up and can lead to liver disease.


Alpha-1 is a genetic condition:

Persons affected with the condition have received two copies of the defective gene: One copy from their mother and the other copy from their father. The normal gene is denoted as M while the two most common disease causing mutations are S and Z. Patients with two copies Z allele are mostly likely to be clinically identified as they tend to suffer from lung and liver side effects. It is possible to be a SZ but this combination does not show the same symptom prevalence as people with two copies of Z. People who only carry one mutant gene are known as carriers and can pass the gene on to their children.


Testing for Alpha-1:

The World Health Organization (WHO), American Thoracic Society (ATS), and the European Respiratory Society (ERS) have all recommended that patients with Chronic Obstructive Pulmonary Disease (COPD) should be tested as it is estimated the Alpha-1 is the root cause of 3% of COPD cases. The children of parents with an Alpha-1 diagnosis should also be tested. The test is little more than a small finger prick to collect a blood sample and it is the only way to diagnose the disease. Visual inspection of symptoms alone is not an accurate method of diagnosis.

If you are interested in being tested there are private and confidential kits available. Prior to testing you should speak with your doctor and/or a genetic counselor. Various resources are available if you are interested. It is important to diagnose the disease if it is present because a number of preventative measures can be taken to try ensure that the disease remains mild. These measures can prevent or postpone the necessity of organ transplant.

Alpha-1 antitrypsin deficiency is a treatable condition if detected early and managed by a skilled physician.


The Alpha-1 Foundation:

The Alpha-1 Foundation is an organization that is dedicated to funding research and providing educational resources for patients. New Lung Associates has recently been awarded their recognition as a Clinical Resource Center for our continued work with Alpha-1 patients. To find out more about the foundation to to access their additional resources click their logo below.