Alpha-1 antitrypsin is an anti protease that protects the lungs from endogenous elastases, collagenases, and protease. These enzymes are responsible for the break down of proteins.

In smoking patients with early onset liver disease or panlobular emphysema, the diagnosis of  alpha-1 antitrypsin deficiency should be considered.

Why does it cause cirrhosis?

The cirrhosis results from the inability to release the mutated alpha-1 antitrypsin protein which is made in the liver. It accumulates in the liver and results in cellular death and necrosis.

REFERENCES

  1. Laboratory Medicine: The Diagnosis of Disease in the Clinical Laboratory. William E. Winter. Chapter 16: The Liver and Biliary Tract.
  2. Stoller JK, Aboussouan LS. A review of α1-antitrypsin deficiency. Am J Respir Crit Care Med. 2012 Feb 1;185(3):246-59. doi: 10.1164/rccm.201108-1428CI.

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