Which genotypes cause A1AT deficiency disease?

PiZZ (most severe) causes serum A1AT <11 μmol/L and significant lung/liver disease; PiSZ causes intermediate deficiency; PiMZ heterozygotes have mildly reduced levels with low disease risk.

What serum A1AT level is required for augmentation therapy?

Augmentation therapy is indicated when serum A1AT is 11 μmol/L.

Does smoking accelerate emphysema in A1AT deficiency?

Smoking dramatically accelerates lung disease; non-smoking PiZZ patients lose ~50 mL FEV1/year vs ~100 mL in smokers; smoking cessation is the most important intervention.

What liver disease occurs in A1AT deficiency?

Z-polymer accumulation in hepatocytes causes liver disease (neonatal hepatitis, childhood cirrhosis in some, adult liver disease); augmentation therapy treats lung not liver disease.

What CT pattern is characteristic of A1AT emphysema?

Basilar-predominant panacinar emphysema on CT is characteristic, in contrast to the upper-lobe predominant centrilobular emphysema seen in smoking-related COPD.

Alpha-1 Antitrypsin Deficiency Severity Composite

Composite severity assessment for alpha-1 antitrypsin deficiency using Pi typing, serum A1AT level, FEV1 percent predicted, DLCO, and liver fibrosis markers to guide augmentation therapy decisions.

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Frequently Asked Questions

Which genotypes cause A1AT deficiency disease?

What serum A1AT level is required for augmentation therapy?

Does smoking accelerate emphysema in A1AT deficiency?

What liver disease occurs in A1AT deficiency?

What CT pattern is characteristic of A1AT emphysema?