This variant represents carrying two copies of the PiS variant in alpha-1-antitrypsin deficiency with 60% enzymatic activity. No direct correlation with liver disease according to Liver Disease in Alpha 1-Antitrypsin Deﬁciency: A Review and no increased risk of emphysema according to .
This is a genotype with recommended actions if clinically confirmed. In brief:
- Consider getting tested for A1AT deficiency.
- Avoid smoking (and smoke) to reduce COPD risk.
- Be aware of liver disease potential and need for monitoring; minimize alcohol consumption.
- Reduce exposure to dust, fumes, gases and air pollutants if possible.
- Those positive for A1AT deficiency should inform their relatives, especially siblings whose risk of A1AT deficiency is 25%.
The full ClinGen Actionability report about A1AT deficiency can be found here.
Genetic counseling may be available to you through your health-care network. Additional information is available via our Find A Genetic Counselor webpage, located here.