Who Is at Risk?

You may have inherited Alpha-1 from your parents

You could be at risk if your parent, brother, or sister has Alpha-1. Alpha-1 is equally likely to affect males and females. Talk to your family members about their health history. If any of your relatives has Alpha-1, you should get tested.

The figure below shows how Alpha-1 Antitrypsin can be inherited. Each parent has two different versions of the gene responsible for producing Alpha-1 Antitrypsin. The “M” version is the most common version, and it produces normal levels of Alpha-1 Antitrypsin.

Most people have two copies of the “M” version (MM) in each cell. The “Z” version of the gene produces very little Alpha-1 Antitrypsin. Individuals with two copies of the “Z” version in each cell are likely to have Alpha-1 Antitrypsin deficiency. The figure shows the possible outcomes for children of two parents with the “MZ” combination of genes, with children getting one version of the gene from each parent. On average, one child in four children of such parents will have Alpha-1 Antitrypsin deficiency, and three in four will have at least one “Z” version of the gene.

Your asthma or COPD symptoms may be caused by Alpha-1

Even if your close relatives do not have Alpha-1, you still might have it and some people with Alpha-1 do not have obvious symptoms.

Your doctor can do a simple test for Alpha-1.

Should I be tested?

The American Thoracic Society states that you should be tested for Alpha-1 if you have ¹:

Asthma that cannot be reversed
COPD

Unexplained bronchiectasis (can't clear out lung congestion; unexplained infections; pronounced "bron-key-eck-tas-is")
Unexplained liver disease
Close family members who have Alpha-1

If you have Alpha-1, find out how you can have peace of mind. Explore your treatment options.

1.	American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of individuals with AAT deficiency. Am J Respir Crit Care Med. 2003;168:818-900.