Alpha-1 antitrypsin

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.

This entry was posted in Multiple Choice Question. Bookmark the permalink.

Leave a Reply

Please log in using one of these methods to post your comment: Logo

You are commenting using your account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )


Connecting to %s