Tuesday, July 28, 2009

Alpha 1-antitrypsin deficiency review in NEJM

Key points from the review:

Current guidelines recommend testing for alpha 1 in all COPD patients without exception and in those asthma patients who do not normalize their PFTs with treatment.

Disease associations, in addition to emphysema, include bronchiectasis, asthma, liver disease, necrotizing panniculitis and Wegener's granulomatosis.

Replacement therapy is of modest benefit in affected individuals with COPD, may be dramatically effective in necrotizing paniculitis (anecdotal reports), and is ineffective against Wegener's granulomatosis and liver disease (for obvious reasons).

For patients with end stage liver disease transplantation reverses the syndrome of liver failure and comes with the added bonus of curing the alpha 1-antitrypsin deficiency!

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