A nurse cares for a client who tests positive for alpha-antitrypsin (AAT) deficiency.
The client asks, "What does this mean?" How would the nurse respond?

Choice A rationale

Alpha-1 antitrypsin (AAT) deficiency is an autosomal co-dominant genetic disorder, not strictly recessive. While individuals with two deficient alleles (PiZZ) are at highest risk, heterozygous carriers (PiMZ) also have an increased risk for developing COPD, particularly with environmental exposures like smoking. Therefore, stating children will be at high risk is an oversimplification and potentially inaccurate regarding the genetic transmission pattern.

Choice B rationale

While genetic counseling is an appropriate recommendation for individuals with AAT deficiency to understand inheritance patterns and reproductive risks, it is not the most immediate and direct response regarding the client's personal health implications. The client's question focuses on what the diagnosis means for *them*, not their offspring initially.

Choice C rationale

AAT deficiency significantly increases the risk for developing emphysema, a form of COPD, especially when compounded by environmental factors such as smoking. AAT normally protects lung tissue from elastase, and its deficiency leads to unchecked protease activity and subsequent lung destruction. This response directly addresses the client's personal health risk and a major modifiable factor.

Choice D rationale

This statement is inaccurate. AAT deficiency is not a recessive gene in a simple Mendelian sense where only homozygous recessive individuals are affected. It's an autosomal co-dominant condition where both alleles contribute to AAT levels, and even heterozygous carriers (PiMZ) can have lower AAT levels and increased risk for COPD, especially with smoking. Thus, it certainly impacts health.