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Research Project

Characteristics of Bronchiectasis in Alpha1-Antitrypsin Deficiency Patients with genotype other than Pi*ZZ

Principal Investigator:
Francesca Mandurino Mirizzi
Center:
Università degli Studi di Milano
City/Country:
Milano (Italy)
Start date:
May 2, 2024
Status:
Ongoing
Contact E-mail:
francesca.mandurino@unimi.it
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Introduction

The clinical presentation of AATD lung disease varies widely, challenging the stereotype of the young person suffering from emphysema. There's growing recognition of its association with other chronic respiratory phenotypes, such as asthma and bronchiectasis, although their prevalence and characteristics aren't widely acknowledged, and research findings are controversial.

It is plausible that other AAT proteins, aside from Z, may also play a role in inflammation, as evidenced by studies demonstrating a higher prevalence of bronchiectasis in AATD patients with non-PiZZ phenotypes compared to those with normal levels of AAT.

At the moment, studies about the prevalence and characteristics of bronchiectasis in genotypes other than ZZ involving large international cohorts are missing.

 

Objectives

The aim of our study is to improve the understanding of bronchiectasis among individuals with rare alpha-1 antitrypsin deficiency genotypes (non-ZZ), comparing these subjects with the extensively studied ZZ genotype group, and analyzing their prevalence, clinical characteristics, risk factors, medical history and quality of life, using data from a large international cohort.

Inclusion criteria

We are going to perform a retrospective study using data from the EARCO International Registry, including bronchiectatic patients with non-ZZ genotypes (such as PiSZ, PiMmalton, PiMwurzburg, PiF, PiI, PiSNull, PiSS and others).

Brief summary

Sociodemographic and clinical data will be collected, including information on risk factor exposure, medical history, medication, exacerbations, AATD-related diseases, CT scan, lung function test results, liver elastography outcomes, and physical examination findings.
Additionally, routine serum biomarkers will be collected (hemoglobin, platelets, leukocytes, neutrophils, lymphocytes, eosinophils, monocytes, basophils, gamma-glutamyl transferase, alkaline phosphatase, alanine transaminase, aspartate transaminase, C-reactive protein, and fibrinogen).
A descriptive analysis will be conducted to assess bronchiectatic patients with non-ZZ genotypes.
Subsequently, comparisons of clinical, analytical, and radiological characteristics will be made to delineate differences in relation to genotype and alpha-1 antitrypsin levels.