Alpha-1 Antitrypsin Deficiency

Home Forums Thoughts On Research Alpha-1 Antitrypsin Deficiency

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    Barbara Barr-Haylock

    Alpha-1 Antitrypsin Deficiency.

    So far my mother died at age 56 from small-cell lung cancer directly attributable to smoking (life-long smoker).

    My older brother died age 55 from emphysema (life-long smoker). If not his lungs his liver was failing probably due to excessive alcohol usage.

    I told my doctor 10 years ago that I just knew Mother Nature was gunning for me and it would be my lungs despite being only non-smoker in our family. I was 53 when I first started experiencing chest colds and SOB and again when I 56. I will be 63 this month.

    Is any research being done re Alpha-1 Antitrypsin Deficiency been researched beyond the COPD/Emphysema and liver connection? Is screening for Alpha-1 Antitrypsin Deficiency standard in the IPF clinical workup?

    I find it interesting that so far (?) they have found that the Alpha-1 Antitrypsin Deficiency can lead to lung (COPD/Emphysema) or liver disease even for non-smokers AND that fibrosis can occur both in the lungs and the liver.

    #1503 Reply

    Jeff Swigris

    Hi Barbara:

    That’s a great observation! To my knowledge, there is no link between alpha-1 and ILD. That said, your comment made me think about the emerging data on polymorphisms (normal variant) in the MUC5B gene, which codes for mucin (an airway protein/substance) and the risk of pulmonary fibrosis.

    We have a lot to learn, and we need to ask questions that, at first blush, may not seem to make sense to the majority of folks…or else we’re never going to push our field to a state of improved understanding.

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