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COPD? Alpha-1? How Can You Tell?

GenesView Emphysema Animation

When Alpha-1 Antitrypsin Deficiency (Alpha-1)* occurs, it is commonly misdiagnosed as Asthma, Allergies, Bronchiectasis, Emphysema, and/or COPD because all of these lung diseases have similar symptoms. 1

*Also known as alpha-1 antitrypsin deficiency, AATD, A1-PI deficiency, alpha-1 proteinase deficiency, A1AD, or hereditary or genetic emphysema.

How can you tell if your COPD or emphysema is caused by AAT deficiency? To start, it is helpful to understand more about regular COPD/emphysema, and how they are similar to and different from Alpha-1 related COPD/emphysema.

About COPD & Emphysema

Chronic Obstructive Pulmonary Disease (COPD) is a broad term used to describe a group of pulmonary diseases with airflow limitation or the inability to move air out of the lungs. This could be due to problems with the lung tissue itself (emphysema) or problems in the airways, such as excessive mucus build-up or spasms in the muscles surrounding the airways (asthma, bronchiectasis, chronic bronchitis).2

Emphysema is a form of chronic obstructive pulmonary disease (COPD). Emphysema is caused by destruction of alveoli, small sac-like structures in the lungs where oxygen from the air is exchanged for carbon dioxide in the blood. As a result of the damage, the fragile alveolar walls become filled with “holes.” Destruction of the alveolar walls leads to less surface area for gas exchange, which leads to less oxygen in the blood.

The Alpha-1 Difference

The symptoms and effects of emphysema are the same, whether the emphysema is caused by AAT deficiency or by other factors, such as smoking. But there are several factors about emphysema related to AAT deficiency which are different, including:3

  • Younger age of onset
  • May be associated with liver abnormalities and panniculitis
  • May occur without smoking history (Individuals with AAT deficiency who do smoke may experience earlier onset of symptoms.)
  • Family history of any of the following: emphysema/COPD, liver disease or panniculitis

Find Out for Sure

It is important for anyone with lung disease to consider Alpha-1. Get started by learning more about the signs and symptoms of Alpha-1. See the recommended standards for testing from the ATS/ERS. Order a test kit and take it to your doctor.

Getting tested is the only way to find out for sure if you have Alpha-1. Early and accurate diagnosis is crucial because specific therapy is available for people with Alpha-1.

References

  1. American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168:818-900.
  2. American Lung Association. Understanding COPD. Available at: http://www.lungusa.org/lung-disease/copd/about-copd/understanding-copd.html. Accessed April 7, 2010.
  3. Adapted from the American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with AAT deficiency. Am J Respir Crit Care Med. 2003;168:818-900.