Alpha-1 Antitrypsin Deficiency


What is Alpha-1 Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency is a rare inherited condition that can lead to serious lung disease in adults. At least 100,000 people in the United States – from all populations and ethnic groups – have the condition.

Alpha-1 occurs when there is an abnormal level of a protein called alpha-1 antitrypsin in the blood. White blood cells in the lungs produce an enzyme that destroys invading germs and digests damaged or aging cells. To make sure the enzyme doesn’t overdo its job, the body also produces the alpha-1 protein to neutralize the enzyme. In people with alpha-1 antitrypsin deficiency, there isn’t enough of the alpha-1 protein in the lungs to neutralize the enzyme – so it keeps on working, destroying normal lung tissue.

Severe asthma, early onset emphysema or COPD, and damage to lower lungs are clues to a diagnosis, however a simple blood test is necessary to know for sure. Misdiagnosis and delayed diagnosis are common – alpha-1 is often first thought to be asthma or COPD.

What are the symptoms of Alpha-1 Antitrypsin Deficiency?

  • Shortness of breath
  • Wheezing
  • Recurring chest colds
  • Chronic bronchitis
  • Reduced ability to exercise
  • Year-round allergies

What is the treatment for Alpha-1 Antitrypsin Deficiency?

There is no cure for alpha-1 antitrypsin deficiency, but medications are available to address inflammation and improve breathing.

Alpha-1 patients require the same medications that are effective for non-alpha patients with asthma or COPD, including bronchodilator inhalers to open up lung passages and inhaled corticosteroids to reduce chronic inflammation.

In addition, there’s a specific treatment for alpha-1: protease inhibitor augmentation therapy, which helps slow or stop the progression of lung damage by replacing the deficient protein. This treatment is administered via weekly intravenous infusions.

Doreen’s Story

I was in my mid-20s when I was diagnosed with asthma. For years, I used my inhaler, but my symptoms kept getting worse. Deep down, I knew something wasn’t right. So I went to a pulmonologist who diagnosed me with alpha-1.

The pulmonologist told me, ‘We are going to be friends for a long time.’ I needed to hear that. It’s important for people with alpha-1 to have a good relationship with their doctor.

Soon after the diagnosis, I began augmentation therapy. I take weekly infusions and attend pulmonary rehabilitation classes twice a week. I also attend local support group meetings.

My quality of life improved when I decided to take charge of my health. Getting involved and educating myself was so important.

Doreen Flook
Waterford, Michigan


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