The management of Familial Pulmonary Fibrosis in different medical settings: Where does that leave us? An Italian nationwide survey

Giorgio Monteleone; ILDs Study Group SIP/IRS; Laura Bergantini; Miriana D'Alessandro; Tommaso Pianigiani; Jacopo Simonetti; Bruno Iovene; Francesco Varone; Giacomo Sgalla; Luca Richeldi; Elena Bargagli; Paolo Cameli

doi:10.36141/svdld.v41i3.15744

The management of Familial Pulmonary Fibrosis in different medical settings: Where does that leave us? An Italian nationwide survey

Authors

Giorgio Monteleone Catholic University of Sacred Heart, Rome, Italy;
ILDs Study Group SIP/IRS Pulmonology Unit and Institute of Radiology, University of Trieste, Department of Medical Surgical and Health Sciences, Hospital of Cattinara, Trieste, Italy; UOC Pneumotisiology, Department of Clinical Medicine and Surgery, University Federico II, Naples; Respiratory Diseases Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, Milan, Italy; Catholic University of Sacred Heart, Rome, Italy; Pulmonology Unit, Binaghi Hospital, Cagliari, Italy
Laura Bergantini Respiratory Diseases Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy;
Miriana D'Alessandro 2Respiratory Diseases Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy;
Tommaso Pianigiani 2Respiratory Diseases Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy;
Jacopo Simonetti Catholic University of Sacred Heart, Rome, Italy;
Bruno Iovene Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
Francesco Varone Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy;
Giacomo Sgalla Catholic University of Sacred Heart, Rome, Italy; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
Luca Richeldi Catholic University of Sacred Heart, Rome, Italy; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
Elena Bargagli Respiratory Diseases Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy;
Paolo Cameli Respiratory Diseases Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy;

Keywords:

Familial pulmonary fibrosis; Interstitial lung diseases; Genetic mutations; Medical settings

Abstract

Background and aim: Familial Pulmonary Fibrosis (FPF) is an emerging group of interstitial lung diseases (ILDs) caused by mutations mainly involving “telomere-related genes” and “surfactant-related genes”. Although, in 2023, European Respiratory Society proposed a statement for FPFs management, these still remain a burden. Our work aimed to evaluate the management and impact of FPF in three Italian different medical settings: University Hospitals (UHs), non-University Hospitals (N-UHs) and outpatient clinics. Methods: This survey was created by ILDs Study Group Società Italiana di Pneumologia/ Italian Respiratory Society (SIP-IRS) and diffused via email to all SIP-IRS members. The descriptive statistical analysis was conducted through GraphPad Prism software (version 8.0). Results: Twenty participants replied to the survey, of which 65% (13/20) worked at UH while the remaining 25% (6/20) and 5% (1/20) worked at N-UH and outpatient clinics, respectively. Centers with, at least, 150 ILD patients visits/year followed a higher number of FPF patients, regardless of University affiliation (p=0.0046). Despite significant discrepancies in genetic testing and availability of counselling were registered, no statistically significant differences in patients' anamnesis assessment were observed between UHs and N-UHs (p=0.4192 and p=0.6525). However, there were relevant differences in the number of FPF patients undergoing genetic assessment in the Centers with Genetics Lab or Unit inside the Hospital (p=0.0253). There was no consensus regarding the impact of FPF diagnosis on lung transplantation and screening of asymptomatic relatives. Similarly, no differences were reported in antifibrotic prescriptions between UHs and N-UHs. Although the typical UIP pattern was the most common radiological pattern observed in FPF patients, there were no differences in the prevalence of histopathological patterns between UH and N-UH. Conclusions: Improving pulmonologists' knowledge of the approach, diagnosis and management of FPF is a global medical topic. Scientific societies can provide significant support in raising physicians' awareness of this issue.

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