Symptoms of Alpha-1

These symptoms could mean you have Alpha-1 Antitrypsin Deficiency:

• Early onset of emphysema (at age 45 or younger)
• COPD – emphysema, chronic bronchitis, or bronchiectasis (inability to clear congestion/frequent lung infections)
• Symptoms beginning between the ages of 25 and 50
• Asthma – not fully reversible with asthma medication/inhalers
• Shortness of breath (with routine activity or at rest)
• Frequent cough – with or without mucus
• Wheezing
• Liver disease with no known cause
• Necrotizing panniculitis (looks like raised red spots on the skin)
• Family history of COPD (emphysema), liver disease, or unexplained death

How Alpha-1 is Inherited

Alpha-1 is a genetic disorder. That means it is passed down from family member to family member over generations.

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.

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