Alpha-1 Antitrypsin Deficiency


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Doreen Flook was in her mid-20s when she was diagnosed with asthma. For years, the Waterford, Michigan resident was prescribed a bronchodilator inhaler but her asthma and bronchitis kept getting worse.

Unfortunately, her doctor did not investigate further. “Deep down,” Flook says, “I always knew something wasn’t right.”

A new doctor listened to her symptoms and sent Flook to a pulmonary specialist, who diagnosed her with Alpha-1 Antitrypsin Deficiency, a rare inherited condition that can lead to serious lung disease in adults, as well as liver disease.

Says Flook: “The pulmonologist who diagnosed my Alpha-1 understood what I was going through and he said he would help me no matter how long it took. He 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.”

What Is Alpha-1 Antitrypsin Deficiency and how is it diagnosed?

At least 100,000 people in the United States – from all populations and ethnic groups – have Alpha-1 Antitrypsin Deficiency, but fewer than 10 percent have been properly diagnosed. Misdiagnosis and delayed diagnosis are routine – Alpha-1 is often first thought to be asthma or chronic obstructive pulmonary disease (COPD).

In lungs, white blood cells 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, also called Alphas, there isn’t enough alpha-1 protein in the lungs to neutralize the enzyme, so it keeps on working, attacking and destroying normal lung tissue.

Alpha-1 symptoms are much the same as asthma and COPD in non-Alphas: shortness of breath, wheezing, recurring chest colds, chronic bronchitis, reduced ability to exercise and year-round allergies.

Severe, persistent asthma, early onset emphysema or COPD, and damage to the lower lungs are clues to a diagnosis, however a simple blood test is needed to know for sure.

Primary care doctors and allergists will typically refer Alpha-1 patients to a pulmonologist who specializes in the condition. However, a patient and allergist who are willing to learn about the condition together can also make a good team.

What is the treatment?

There is no cure for Alpha-1 Antitrypsin Deficiency, but treatments are available.

Alphas need 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 is a specific treatment for Alphas: augmentation therapy, which helps slow or stop the progression of lung destruction by replacing the deficient protein. This treatment is administered by weekly intravenous infusions.

Flook began augmentation therapy shortly after her diagnosis. Now she has weekly infusions and attends pulmonary rehabilitation classes twice a week. She also attends local support group meetings and education days.

Flook believes her quality of life improved when she decided to take charge of her health. “Getting involved and educating myself was so important for me,” she says.

Alpha-1 Patient Resources

The nonprofit Alpha-1 Foundation is committed to finding a cure for Alpha-1 Antitrypsin Deficiency and to improving the lives of people affected by Alpha-1 worldwide. The foundation’s website,, offers extensive information for patients, caregivers and health care providers.

AlphaNet is a nonprofit company that specializes in health management services for Alpha-1 patients. The website is

This article first appeared in the Winter 2014 issue of Allergy & Asthma Today magazine. It was written by Bob Campbell, director of communications for the Alpha-1 Foundation based in Coral Gables, Fla.