Alpha1-antitrypsin deficiency

Medical Specialties: Internal medicine, Medical genetics, Pulmonology


Clinical Definition

Alpha1-antitrypsin deficiency is a genetic disorder, which causes insufficient production of the blood protein alpha1-antitrypsin. The protein, which is manufactured in the liver, travels through the bloodstream and protects the lungs from the enzyme neutrophil elastase. The lack of alpha1-antitrypsin allows the enzyme to accumulate and damage the lungs.

 

As a result, conditions including emphysema and chronic obstructive pulmonary disease may develop. Additional pathophysiology of the deficiency may also include liver damage and skin problems. 


In Our Own Words

Alpha1-antitrypsin deficiency is rare enough that, unfortunately, it tends to go unnoticed until the damage is evident. It’s an inherited condition that occurs when the liver does not make enough of the protein alpha1-antitrypsin, an enzyme that keeps other enzymes in check. When the body responds to an infection, white blood cells release an enzyme called neutrophil elastase. This elastase is helpful because it digests bacteria in the lungs, but it can also continue to digest healthy tissue if left unchecked.

 

Normally, alpha1-antitrypsin stops the enzyme from destroying healthy lung cells. When not enough alpha1-antitrypsin is made, the enzyme starts to attack healthy lung tissue, which may cause lung disorders, such as emphysema and chronic bronchitis. Liver disease and skin problems may also develop. 

Relevant Conditions
  • COPD
  • Emphysema
  • Chronic bronchitis
  • Cirrhosis
Side Effects
  • Shortness of breath
  • Wheezing
  • Couging
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sources
  • Children’s Hospital of Pittsburgh. “Alpha1-Antitrypsin Deficiency.” http://www.chp.edu/CHP/alpha+def. Accessed October 2013.
  • The University of Utah. “Alpha1-Antitrypsin Deficiency.” http://learn.genetics.utah.edu/content/disorders/singlegene/a1ad/. Accessed October 2013.
  • The University of Chicago Medicine. “Alpha1-Antitrypsin Deficiency.” http://www.uchospitals.edu/specialties/lung/conditions/alpha-1. Accessed October 2013.
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