Skip to content

COPD Health Center

Font Size

How to Recognize Alpha-1 Antitrypsin Deficiency

WebMD Feature
Reviewed by David T. Derrer, MD

When Bob Campbell found out that he had alpha-1 antitrypsin deficiency (alpha-1) at age 55, he'd never heard of this inherited lung disease before. Most people haven't.

But once he learned more, it made sense. "That diagnosis explained so much," he says. Campbell had emphysema by his late 20s. He had a family history of severe lung problems. Up until that moment, he never knew why.

Recommended Related to COPD

Emphysema: Diagnosis and Treatments

Emphysema is a chronic (long-term) lung disease, usually caused by smoking. Emphysema is the main form of chronic obstructive pulmonary disease (COPD). Diagnosing emphysema usually requires pulmonary function tests, combined with a history of symptoms, such as shortness of breath. There is no emphysema cure other than lung transplantation. However, emphysema treatments can improve symptoms and preserve lung function.

Read the Emphysema: Diagnosis and Treatments article > >

Alpha-1 is genetic. People with it have two copies of a faulty gene, one from each parent. Like Campbell, many people with this condition have a family history of lung and liver problems.

Even though he saw several doctors over the years, Campbell had to wait 27 years to get the right diagnosis. It shouldn't take that long. Alpha-1, also called AAT deficiency, is rare. But it's easy to find with a simple blood test. The sooner you find out you have it, the sooner you can start treatment that may protect your lungs.

What Is Alpha-1 Antitrypsin Deficiency?

The first signs are usually lung problems, like chronic wheezing or coughing. But the problems start in your liver. It doesn't send enough of a special protein, called alpha-1, out into the bloodstream. The protein is needed to protect your lungs.

Over time, the lack of the protein can lead to lung damage. Tobacco smoke, pollution, and even common colds can cause serious illness.

Symptoms include:

  • Shortness of breath and wheezing
  • Chronic cough with mucus
  • Colds that don't go away
  • Asthma that doesn't get better with treatment

In some people, the buildup of the alpha-1 protein in the liver leads to problems, including:

  • Jaundice, which causes your skin and eyes to turn yellowish
  • Swelling in your belly and legs

No one can diagnose it based on symptoms alone. You need a blood test.

Many other conditions share some of these symptoms. That's why doctors often miss it. It's estimated that fewer than 10% of people with the illness know they have it.

"Many people that I see with alpha-1 were misdiagnosed," says Robert A. Sandhaus, MD, PhD, of National Jewish Health in Denver. "Their doctors told them they had asthma and never tested them."

Often, people are first told they have COPD (chronic obstructive pulmonary disease) and only later learn it's actually alpha-1.

Today on WebMD

man talking to his doctor
Check your COPD risk.
woman using inhaler
What is the top cause of this condition?
chest x-ray
7 early warning signs.
Senior couple stretching
10 exercises for people With COPD.
Bronchitis Overview
Senior woman blowing dandelion
Living With Copd
human lung graphic
Energy Boosting Foods
red heart and ekg
Living With Copd
Senior couple stretching

WebMD Special Sections