[Alpha 1-antitrypsin Deficiency]

Overview

Journal Inn Med (Heidelb)

Specialty General Medicine

Date 2024 May 24

PMID 38789803

Authors

Sebastian Fahndrich

Robert Bals

Affiliations

Soon will be listed here.

Abstract

Alpha 1‑antitrypsin (AAT) deficiency represents a complex genetic disorder and necessitates an interdisciplinary approach in the clinical practice. This article provides an overview of the epidemiology, genetics, symptoms, diagnostics and treatment of AAT deficiency. Knowledge and an in-depth understanding of AAT deficiency are indispensable to improve the early recognition of AAT, to optimize the quality of life of those affected and to enable targeted treatment interventions.

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