Tuesday, February 14, 2006

When to treat Alpha-1 Antitrypsin

38 yo female with no PMH except A1AT deficiency diagnosed in her 20's when she was being worked up for abnormal liver tests. Her level then was 21 mg/dL (normal > 80). PiZZ phenotype.
Her PFT's (spiro only) in 1989 were completely normal per a dicatated report by a pulmonologist practicing at a now-closed hospital. The pulm specialist is now retired.
She was not treated with enzyme replacement.

She was referred to me after her PCP rechecked the level and again confirmed 21 mg/dL.

She feels well, exercises 5 days per week without any dyspnea. She has not had a resp infection since she was in her teens (when she smoked for about 5 years...1/2 ppd). She has no limitations.

PE: Normal.

Labs: AST and ALT in 50's. O/w normal (except A1AT level).


Would you treat?
If not, how would you follow and what would push you to treat?
Would you offer inhalers to this asymptomatic patient?

4 comments - CLICK HERE to read & add your own!:

Jeff H said...

I would not treat with enzyme replacement, as her pulmonary function is "normal" and she is asymptomatic.

She's air trapping and hyperinflated. As she's asymptomatic, I don't think this is an indication for treatment; that said, I wouldn't mind trying tiotropium for 6 months to a year to satisfy my curiosity as to whether that would improve her hyperinflation...

Baleeiro said...

I agree with Jeff H about not starting enzyme replacement. I don't think she even needs bronchodilators at this point. You should monitor her periodically with PFTs and she should be counselled Re: not starting to smoke.
I am also curious about her liver function. Since she did have abnormal liver Fxn, does she have significant liver Dz?

Jennings said...

i also would not treat based on the normal spiro and her being asymptomatic. Would repeat spiro yearly (or earlier if symptomatic) and not intervene unless there is a change.

Mike L said...

She had a normal ultrasound in 2004, and her transaminases have been persistently elevated as far back in our system as 1999. Her coags are normal.

Her PCP is sending her to a hepatologist and repeating an ultrasound to see if she requires a liver biopsy.