Research Project

Delayed diagnosis phenotypes in alpha-1 antitrypsin deficiency

Principal Investigator:

Juan Luis Rodriguez-Hermosa

Center:

Hospital Clínico San Carlos

City/Country:

Madrid, Spain

Start date:

August 2026

Status:

Ongoing

Contact E-mail:

jlrodr01@ucm.es

Introduction

Alpha-1 antitrypsin deficiency is a heterogeneous disease with substantial variability in age at diagnosis, clinical presentation, and disease progression. Although delayed diagnosis is common, it remains unclear whether these patients share common clinical phenotypes and whether such phenotypes are associated with different longitudinal outcomes. Diagnostic delay in AATD has been linked to more advanced disease and worse clinical status at presentation, supporting the need to better characterize this subgroup

Objectives

The primary objective of this study is to characterize the clinical phenotypes associated with delayed diagnosis and to assess the prognostic impact of diagnostic delay in AATD within the EARCO cohort.

Inclusion criteria

Patients with severe AATD included in EARCO

Brief summary

Delayed diagnosis will be operationalized as time since AATD diagnosis, categorized at baseline as <5 years versus ≥5 years. The cutoff points of <5 years and ≥5 years since diagnosis were chosen based on evidence showing that the most rapid progression of emphysema occurs within the first 5 years after diagnosis, especially in patients with ongoing risk factors such as smoking and frequent exacerbations.

This project will improve the understanding of delayed diagnosis in AATD by identifying the clinical phenotypes most commonly associated with diagnostic delay and the warning signs that could facilitate earlier recognition.