Alpha-1 Antitrypsin Deficiency

What is Alpha-1 Antitrypsin Deficiency?
Who has Alpha-1?
What are its symptoms?
How serious is Alpha-1 Antitrypsin Deficiency?

What is Alpha-1 Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic condition that can lead to serious lung problems. It is passed from parents to their children through the genes. This is the only way Alpha-1 is passed from person to person. You cannot "catch" Alpha-1, nor can you give it to someone else through contact.

In healthy people, the liver produces a protein called alpha-1 antitrypsin. Its purpose is to counteract an enzyme in the lungs called neutrophil elastase. Neutrophil elastase is a helpful enzyme that digests bacteria and old cells in the lungs, but if left unchecked, it will begin to damage healthy lung tissue. Alpha-1 antitrypsin prevents this from happening.

In patients with alpha-1 antitrypsin deficiency, alpha-1 antitrypsin cannot pass through the liver into the bloodstream. Therefore, neutrophil elastase begins to damage healthy lung tissue. Ultimately, Alpha-1 may result in a serious lung condition, such as emphysema.

Who has Alpha-1?

Current data estimates that one out of every 5,000 Americans has Alpha-1. Despite this, it is estimated that only 10-15% of patients with Alpha-1 have been diagnosed. Alpha-1 is commonly misdiagnosed as asthma or COPD. In fact, out of the 12 million patients diagnosed with COPD in America, approximately 1-3% are predicted to have Alpha-1.

The Temple Lung Center is keenly aware that Alpha-1 remains significantly under-diagnosed. We specialize in recognizing, diagnosing and treating Alpha-1, so this potentially debilitating condition is caught and treated early, before significant lung damage occurs.

What are its symptoms?

Patients with Alpha-1 who smoke are likely to develop symptoms around the age of 35. Patients with the condition who don’t smoke will develop symptoms 5-10 years later.

Symptoms of Alpha-1 may include:

  • Shortness of breath
  • Wheezing
  • Asthma that is not responsive to treatment
  • COPD that is not responsive to treatment
  • Coughing with or without phlegm
  • Chronic lung infections
  • A rapid drop in lung function
  • Unexplained liver problems
  • Elevated levels of liver enzymes

How serious is Alpha-1 Antitrypsin Deficiency?

Alpha-1 is potentially a very serious condition. The end result of the lung tissue damage caused by neutrophil elastase is a specific type of emphysema called inherited emphysema. In Alpha-1 patients, the emphysema progressively worsens until the lungs can no longer function. Augmentation therapy can slow or stop lung deterioration.

In some patients, Alpha-1 can result in cirrhosis of the liver, which can necessitate a liver transplant. About 10 to 15% of all patients needing a liver transplant have some form of Alpha-1. In children requiring liver transplants, Alpha-1 is the most common genetic cause.

A Temple pulmonary specialist can determine if you have Alpha-1 and develop a treatment plan. To schedule an appointment with a Temple Lung Center physician, click here or call 1-800-TEMPLE-MED (836-7536).

Learn more about Alpha-1 treatment.

To learn more about Alpha-1, please visit The Alpha-1 Association.