Monteleone Giorgio, Bergantini Laura, D'Alessandro Miriana, Pianigiani Tommaso, Simonetti Jacopo, Iovene Bruno, Varone Francesco, Sgalla Giacomo, Richeldi Luca, Bargagli Elena, Cameli Paolo
Catholic University of Sacred Heart, Rome, Italy.
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.
Sarcoidosis Vasc Diffuse Lung Dis. 2024 Sep 24;41(3):e2024047. doi: 10.36141/svdld.v41i3.15744.
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.
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.
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.
家族性肺纤维化（FPF）是一组新出现的间质性肺疾病（ILDs），由主要涉及“端粒相关基因”和“表面活性剂相关基因”的突变引起。尽管欧洲呼吸学会在2023年提出了关于FPF管理的声明，但这些疾病仍然是一个负担。我们的工作旨在评估FPF在意大利三种不同医疗环境中的管理情况及其影响：大学医院（UHs）、非大学医院（N-UHs）和门诊诊所。
这项调查由ILDs研究小组意大利肺病学会/意大利呼吸学会（SIP-IRS）创建，并通过电子邮件发送给所有SIP-IRS成员。描述性统计分析通过GraphPad Prism软件（8.0版）进行。结果：20名参与者回复了调查，其中65%（13/20）在大学医院工作，其余25%（6/20）和5%（1/20）分别在非大学医院和门诊诊所工作。每年至少有150例ILD患者就诊的中心随访的FPF患者数量更多，与是否隶属于大学无关（p = 0.0046）。尽管在基因检测和咨询服务的可获得性方面存在显著差异，但在大学医院和非大学医院之间，患者病史评估方面未观察到统计学上的显著差异（p = 0.4192和p = 0.6525）。然而，在医院内设有遗传学实验室或科室的中心，接受基因评估的FPF患者数量存在显著差异（p = 0.0253）。关于FPF诊断对肺移植和无症状亲属筛查的影响，没有达成共识。同样，大学医院和非大学医院在抗纤维化药物处方方面也没有差异。尽管典型的UIP模式是在FPF患者中观察到的最常见的放射学模式，但大学医院和非大学医院之间组织病理学模式的患病率没有差异。
提高肺科医生对FPF的治疗方法、诊断和管理的认识是一个全球性的医学课题。科学协会可以在提高医生对这个问题的认识方面提供重要支持。
