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Allergy / AAT deficiency
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Allergy / AAT deficiency

Hi Doc,

I am 25 and the last few years I have had some chest constriction upon exercising and some shortness of breath, although I am totally out of shape I always attributed it to that. I have also problems coughing up thick yellow sputum during mornings clearing my throat, throughout the day and lately especially during eating of diary products it gets worse for the next hour as the mucus thickens. Since about a year I also have acid reflux problems. All is becoming more annoying lately so I did a stool digestive analysis at a clinic including a Alpha 1 antitrypsin stool test. My results came back 26 ug/g (with ref. values of 54 - 268 ug/g) and when I checked what A1AT def. means I only find things about incurable progressive lung and liver disease, so I got quite scared.

My questions are as follows. First, Is this result clinically low, medically seen as a deficiency? Second, Is faecal analysis as accurate as serum? I.e. could digestive irregularities give false low results (http://www.clinlabnavigator.com/Tests/Alpha1Antitrypsin.html) mentions this.

Third, can you conclude the phenotype from a tested low level/deficiency (meaning, low result means you have Ph ZZ or SS) or is it not that simple?

As far as I know my parents (50's) are and grandparents (90's) are fine and almost all smoke(!) would I not have noticed family related lung problems if I were to have the defective genes? I assume yes, then I come back to: how does my result then seem so low? Last, maybe you can tell me if the symptoms seem to be from something else alltogether?

Thank you for your advice.

LF
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I visited the URL you provided and found no reference to fecal determination of alpha-1 antitrypsin level.  And, given the sites of action of alpha-1, I would doubt that fecal levels would be informative; definitely not as a means to establish the diagnosis.  The serum level of this enzyme is the “gold-standard” and before reaching any conclusions about your phenotype, you should insist upon measurement of the serum level.  In addition, unless the level is very low, one cannot infer a phenotype.

That you should have a productive cough at age 25 is definitely abnormal and worrisome.  Alpha-1 antitrypsin deficiency has been associated with a number of other lung diseases including, but not limited to, chronic bronchitis, asthma and bronchiectasis.  Whatever the cause of your cough and yellow sputum, you should seek consultation with a pulmonary specialist to determine the reason(s) for it.  And, yes it may well be related to your acid reflux.

Good luck.
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