Alpha-1 Antitrypsin Deficiency Overview

Reviewed by Karina A. Serban, MD, Robert A. Sandhaus, MD, PhD, FCCP

Alpha-1 Antitrypsin Deficiency, or more simply Alpha-1, is a genetic condition that causes diminished levels of the protein, alpha-1 antitrypsin, produced in the liver. People with Alpha-1 may never develop any medical disease from this genetic condition. Others with Alpha-1 can develop Alpha-1 lung disease, Alpha-1 liver disease or other medical problems associated with this protein deficiency. If you have Alpha-1, there are things that you can do to reduce your risk of disease. Most prominent among the things that can reduce the risk of disease is avoidance of tobacco smoke.

  • When Alpha-1 affects the lungs, it can cause COPD and is called Alpha-1 Deficiency or Alpha-1 lung disease.

  • When Alpha-1 affects the liver, it is called Alpha-1 liver disease.

  • There may also be an association between Alpha-1 and atypical TB infections in the lung, also called Non-Tuberculous Mycobacteria.


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