Question: A middle aged male tells you he has been diagnosed with alpha-1 AT disease and wants to know his risk for emphysema. His ALT is 102, a-1 AT level is also 102, and a-1 AT phenotype is SZ. What should you tell him?
A. risk is high; get pulmonary function tests right away
B. risk is high; get PFT only if symptomatic
C. risk is low; don’t worry
D. base decision on smoking status
Answer: Understand your alpha-1 AT phenotypes! Since it can be confusing, just remember this: the Z allele is associated with COPD (ZZ moreso than any heterozygous phenotypes like MZ or SZ). Anybody with a Z, therefore, is at risk.
Remember, the liver produces a-1 AT and exports it to the lungs. There is a spectrum of deficiency, so usually some degree of enzyme can be found in serum. As long as the a-1 AT level is > 10 mg/dL, this is an adequate level to protect the lungs. All bets are off if the patient is a smoker. No smoking!
So, of the above answer choices, I’d say the risk is intermediate. The level of 102 mg/dL is probably protective. PFT’s should be obtained if the patient a smoker.