|Summary||Likely carrier of one PiS and one PiZ Alpha-1 Antitrypsin (SERPINA1) alleles; A1AT deficiency|
If the PiS mutation is on a different allele (i.e. chromosome) from the PiZ mutation, which is likely, then this genotype represents a "Pi*SZ" individual.
This is a genotype with recommended actions. 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.