Alpha-1-antitrypsin deficiency

Causes

What are risk factors for alpha-1 antitrypsin deficiency liver disease?

There are different versions, or alleles, of the SERPINA1 gene (also called "PI" types) that cause alpha-1 antitrypsin deficiency (AATD). The most common version or allele is the "M" allele, and having two of these leads to the usual amount of alpha-1 antitrypsin in the blood, which does not cause symptoms. The "S" allele leads to medium-low levels of alpha-1 antitrypsin protein. The "Z" allele leads to very low levels of alpha-1 antitrypsin protein. Having two copies of the Z allele leads to more symptoms of AATD and is the largest risk factor for liver disease, which can include cirrhosis or liver cancer. Risk for liver disease may also be increased by obesity, alcohol use, and a family history of AATD.

Alpha-1 Foundation. Retrieved August 28, 2017 from https://www.alpha1.org/

CHEST Foundation. Retrieved from http://www.chestnet.org/Foundation/Patient-Education-Resources/Alpha1-Antitrypsin-Deficiency

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