Allergic bronchopulmonary aspergillosis as an initial manifestation of cystic fibrosis: Diagnostic and therapeutic implications in the era of CFTR modulators

Georgia Mitropoulou, MD; Zisis Balmpouzis, MD; Aurelia Oberhansli-Wavre, MD; Michael Morris, PhD; Sylvain Blanchon, MD; Alain Sauty, MD; Angela Koutsokera, MD, PhD

Journal of Allergy and Clinical Immunology: Global (Nov 2024)

Allergic bronchopulmonary aspergillosis as an initial manifestation of cystic fibrosis: Diagnostic and therapeutic implications in the era of CFTR modulators

Georgia Mitropoulou, MD,
Zisis Balmpouzis, MD,
Aurelia Oberhansli-Wavre, MD,
Michael Morris, PhD,
Sylvain Blanchon, MD,
Alain Sauty, MD,
Angela Koutsokera, MD, PhD

Affiliations

Georgia Mitropoulou, MD: Adult Cystic Fibrosis and CFTR-related disorders Center, Division of Pulmonology, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland; Lung Transplant Center, Division of Pulmonology, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland; Corresponding author: Georgia Mitropoulou, MD, Division of Pulmonology, Department of Medicine, Lausanne University Hospital, Rue du Bugnon 46, 1011 Lausanne, Switzerland.
Zisis Balmpouzis, MD: Adult Cystic Fibrosis and CFTR-related disorders Center, Division of Pulmonology, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland; Lung Transplant Center, Division of Pulmonology, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland
Aurelia Oberhansli-Wavre, MD: Centre de pneumologie Bulle Santé, Bulle, Switzerland; Rehabilitation Center, Fribourg Hospital, Riaz, Switzerland
Michael Morris, PhD: SYNLAB Genetics, Lausanne, Switzerland
Sylvain Blanchon, MD: Paediatric Pulmonology and Cystic Fibrosis Unit, Division of Paediatrics, Department of Woman-Mother-Child, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland
Alain Sauty, MD: Adult Cystic Fibrosis and CFTR-related disorders Center, Division of Pulmonology, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland; Division of Pulmonology, Department of Medicine, Neuchâtel Hospital Network, Neuchâtel, Switzerland
Angela Koutsokera, MD, PhD: Adult Cystic Fibrosis and CFTR-related disorders Center, Division of Pulmonology, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland; Lung Transplant Center, Division of Pulmonology, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland

Journal volume & issue: Vol. 3, no. 4
p. 100294

Abstract

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Allergic bronchopulmonary aspergillosis (ABPA) results from complex hypersensitivity reactions to Aspergillus fumigatus, which often occur in patients with asthma, cystic fibrosis (CF), or CF transmembrane conductance regulator (CFTR)-related disorders. Genetic predisposition, particularly variants of the CFTR gene, probably plays a significant role in the development of ABPA. We present the case of a 20-year-old male with ABPA and bronchiectasis that was initially misdiagnosed as a result of normal sweat chloride values and negative first-level genetic testing results. Comprehensive CFTR gene sequencing revealed 2 pathogenic variants, R347H and D1152H, which together with the clinical phenotype and functional tests, supported the diagnosis of CF. Treatment with elexacaftor/tezacaftor/ivacaftor resulted in significant clinical and functional improvement, including a marked decrease in total IgE levels, suggesting a potential role for CFTR modulators in controlling ABPA. This case illustrates the evolving understanding of CF as a spectrum of disorders in which CFTR dysfunction may manifest subtly and variably, necessitating a high index of suspicion and a comprehensive diagnostic approach to ensure timely treatment in the era of highly effective CFTR modulators.

Published in Journal of Allergy and Clinical Immunology: Global

ISSN: 2772-8293 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Immunologic diseases. Allergy
Website: https://www.sciencedirect.com/journal/journal-of-allergy-and-clinical-immunology-global

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