Identifying the Alpha-1 Patient

This post was written by Jane Martin, BA, LRT, CRT, Assistant Director of Education at the COPD Foundation.

In our last blog post, Dr. Sandhaus talked about Alpha-1 updates and future focus in light of the recently published Alpha-1 Antitrypsin Deficiency Clinical Practice Guidelines.

Now let’s talk about what you, as a health care professional can do to identify individuals at risk for Alpha-1. Here’s a quick refresher on Alpha-1. Alpha-1 Antitrypsin Deficiency is a genetically inherited condition that may result in serious lung disease in adults and/or liver disease at any age. People with Alpha-1 lung disease have two abnormal genes, one from each parent. There are about 100,000 people with Alpha-1 in the United States, and about the same number in Europe.

Patients with COPD: Atypical and Typical

As a health care professional you, no doubt, care for some patients who just don’t seem to fit the picture of a “typical” person with COPD. They are probably younger, maybe even in their 20’s, and in spite of best practice COPD treatment, continue to present with recurring chest colds or pneumonia often leading to severe exacerbations. They are routinely short of breath, with or without wheezing. A chronic cough with sputum production is common, and in some cases they have bronchiectasis. They have a low tolerance for exercise, at least not able to keep up with those their own age, and often year-round allergies. It could be that they quit smoking cigarettes at a relatively young age or quite possible that they’ve never smoked cigarettes at all.

It’s important for health care professionals to know that Alpha-1 is often first diagnosed as asthma or smoking-related COPD, and can remain undiagnosed correctly for several years, by several different physicians. Yet, Alpha-1 is the most common genetic risk factor for COPD. In fact, about 3 percent of all people diagnosed with COPD may have undetected Alpha-1. So, all individuals with COPD should actually be tested for Alpha-1.

Testing for Alpha-1

Criteria for testing are:

• COPD, regardless of age or ethnicity
• Unexplained chronic liver disease
• Unexplained bronchiectasis
• Necrotizing panniculitis
• Granulomatosis with polyangiitis

Early diagnosis of Alpha-1 is essential to optimizing health management and long-term survival. Testing for Alpha-1 is simple, quick and highly accurate. Testing can be conducted on a blood sample from a venous draw or finger stick. Advance testing may be recommended. Confidential testing is available.

If you have a patient who meets these criteria, talk with that patient’s health care provider about testing for Alpha-1. For more information on detailed criteria, testing, treatment, support and research go to Alpha1.org.

This page was reviewed on March 3, 2020 by the COPD Foundation Content Review and Evaluation Committee