This genotype indicates two copies of the PiZ allele, leading to alpha-1 antitrypsin deficiency and it's clinical consequences. The consequences include high risk for emphysema (80-100% risk according to ClinGen), liver cirrhosis (15-19% risk) and chronic obstructive pulmonary disease, especially in smokers.
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.