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Article

Alpha-1 Antitrypsin Deficiency: Current Landscape of Detection, Management, and Treatment.

Advances in therapy - 1 Apr 2026

Mawani Raunak, Pye Anita, Turner Alice M

Abstract excerpt

Alpha-1 antitrypsin deficiency (AATD) is a rare, underdiagnosed genetic disorder characterized by deficient or dysfunctional alpha-1 antitrypsin (AAT), leading to unopposed neutrophil protease activity. This can often lead to progressive lung and liver damage, and in rare cases panniculitis, which can be potentially lethal. Current diagnostic strategies rely on a stepwise approach beginning with serum AAT...

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PMID: 41678135
DOI: 10.1007/s12325-026-03496-5
PMCID: PMC13065562

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