Gerard J Criner, Shameek Gayen, Massa Zantah, Eduardo Dominguez Castillo, Mario Naranjo, Bilal Lashari, Seyedmohammad Pourshahid, Andrew Gangemi
{"title":"Clinical review of non-invasive ventilation.","authors":"Gerard J Criner, Shameek Gayen, Massa Zantah, Eduardo Dominguez Castillo, Mario Naranjo, Bilal Lashari, Seyedmohammad Pourshahid, Andrew Gangemi","doi":"10.1183/13993003.00396-2024","DOIUrl":"10.1183/13993003.00396-2024","url":null,"abstract":"<p><p>Non-invasive ventilation (NIV) is the mainstay to treat patients who need augmentation of ventilation for acute and chronic forms of respiratory failure. The last several decades have witnessed an extension of the indications for NIV to a variety of acute and chronic lung diseases. Evolving advancements in technology and personalised approaches to patient care make it feasible to prioritise patient-centred care models that deliver home-based management using telemonitoring and telemedicine systems support. These trends may improve patient outcomes, reduce healthcare costs and improve the quality of life for patients who suffer from chronic diseases that precipitate respiratory failure.</p>","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":" ","pages":""},"PeriodicalIF":16.6,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540995/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frédéric Gagnadoux, Sébastien Bailly, Richard J Schwab
{"title":"CPAP recall and cancer risk: should we be concerned?","authors":"Frédéric Gagnadoux, Sébastien Bailly, Richard J Schwab","doi":"10.1183/13993003.01591-2024","DOIUrl":"https://doi.org/10.1183/13993003.01591-2024","url":null,"abstract":"","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":"64 5","pages":""},"PeriodicalIF":16.6,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Srishti Chhabra, Matthew Chung Yi Koh, David Michael Allen
{"title":"The treatment of latent tuberculosis infection in migrants in primary care <i>versus</i> secondary care.","authors":"Srishti Chhabra, Matthew Chung Yi Koh, David Michael Allen","doi":"10.1183/13993003.01569-2024","DOIUrl":"https://doi.org/10.1183/13993003.01569-2024","url":null,"abstract":"","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":"64 5","pages":""},"PeriodicalIF":16.6,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ekaterina Khaleva, Chris Brightling, Thomas Eiwegger, Alan Altraja, Philippe Bégin, Katharina Blumchen, Apostolos Bossios, Arnaud Bourdin, Anneke Ten Brinke, Guy Brusselle, Roxana Silvia Bumbacea, Andrew Bush, Thomas B Casale, Graham W Clarke, Rekha Chaudhuri, Kian Fan Chung, Courtney Coleman, Jonathan Corren, Sven-Erik Dahlén, Antoine Deschildre, Ratko Djukanovic, Katrien Eger, Andrew Exley, Louise Fleming, Stephen J Fowler, Erol A Gaillard, Monika Gappa, Atul Gupta, Hans Michael Haitchi, Simone Hashimoto, Liam G Heaney, Gunilla Hedlin, Markaya Henderson, Wen Hua, David J Jackson, Bülent Karadag, Constance Helen Katelaris, Mariko S Koh, Matthias Volkmar Kopp, Gerard H Koppelman, Inger Kull, Ramesh J Kurukulaaratchy, Ji-Hyang Lee, Vera Mahler, Mika Mäkelä, Matthew Masoli, Alexander G Mathioudakis, Angel Mazon, Erik Melén, Katrin Milger, Alexander Moeller, Clare S Murray, Prasad Nagakumar, Parameswaran Nair, Jenny Negus, Antonio Nieto, Nikolaos G Papadopoulos, James Paton, Mariëlle W Pijnenburg, Katharine C Pike, Celeste Porsbjerg, Anna Rattu, Hitasha Rupani, Franca Rusconi, Niels W Rutjes, Sejal Saglani, Paul Seddon, Salman Siddiqui, Florian Singer, Tomoko Tajiri, Steve Turner, John W Upham, Susanne J H Vijverberg, Peter A B Wark, Michael E Wechsler, Valentyna Yasinska, Graham Roberts
{"title":"Patient-centred composite scores as tools for assesment of response to biological therapy for paediatric and adult severe asthma.","authors":"Ekaterina Khaleva, Chris Brightling, Thomas Eiwegger, Alan Altraja, Philippe Bégin, Katharina Blumchen, Apostolos Bossios, Arnaud Bourdin, Anneke Ten Brinke, Guy Brusselle, Roxana Silvia Bumbacea, Andrew Bush, Thomas B Casale, Graham W Clarke, Rekha Chaudhuri, Kian Fan Chung, Courtney Coleman, Jonathan Corren, Sven-Erik Dahlén, Antoine Deschildre, Ratko Djukanovic, Katrien Eger, Andrew Exley, Louise Fleming, Stephen J Fowler, Erol A Gaillard, Monika Gappa, Atul Gupta, Hans Michael Haitchi, Simone Hashimoto, Liam G Heaney, Gunilla Hedlin, Markaya Henderson, Wen Hua, David J Jackson, Bülent Karadag, Constance Helen Katelaris, Mariko S Koh, Matthias Volkmar Kopp, Gerard H Koppelman, Inger Kull, Ramesh J Kurukulaaratchy, Ji-Hyang Lee, Vera Mahler, Mika Mäkelä, Matthew Masoli, Alexander G Mathioudakis, Angel Mazon, Erik Melén, Katrin Milger, Alexander Moeller, Clare S Murray, Prasad Nagakumar, Parameswaran Nair, Jenny Negus, Antonio Nieto, Nikolaos G Papadopoulos, James Paton, Mariëlle W Pijnenburg, Katharine C Pike, Celeste Porsbjerg, Anna Rattu, Hitasha Rupani, Franca Rusconi, Niels W Rutjes, Sejal Saglani, Paul Seddon, Salman Siddiqui, Florian Singer, Tomoko Tajiri, Steve Turner, John W Upham, Susanne J H Vijverberg, Peter A B Wark, Michael E Wechsler, Valentyna Yasinska, Graham Roberts","doi":"10.1183/13993003.00691-2024","DOIUrl":"https://doi.org/10.1183/13993003.00691-2024","url":null,"abstract":"<p><strong>Background: </strong>We have previously developed Core Outcome Measures sets for Severe Asthma (COMSA) by multi-stakeholder consensus. There are no patient-centred tools to quantify response to biologics for severe asthma. We aimed to develop paediatric and adult CompOsite iNdexes For Response in asthMa (CONFiRM) incorporating clinical parameters and patient-reported quality of life (QoL).</p><p><strong>Methods: </strong>International expert healthcare professionals (HCPs) and patients with severe asthma were invited to: 1) develop consensus levels of clinically relevant changes for each outcome measure within COMSA; 2) use multicriteria decision analysis to develop the CONFiRM scores and 3) assess their internal validity. A separate group of HCPs evaluated CONFiRM's external validity.</p><p><strong>Results: </strong>Five levels of change for each COMSA outcome were agreed. Severe exacerbations and maintenance oral corticosteroids use were rated as most important in determining both paediatric and adult CONFiRM scores. There was strong agreement between HCPs and patients, although patients assigned greater importance to QoL. The CONFiRM score quantified response to a biological from -31 (deterioration) to 69 (best possible response). Paediatric and adult CONFiRMs had good discriminative ability for a sufficient (AUC≥0.92) and a substantial (AUC≥0.95) response to biologics. Both CONFiRMs demonstrated excellent external validity (Spearman correlation coefficients 0.9 and 0.8 for paediatric and adult respectively (p<0.0001)).</p><p><strong>Conclusions: </strong>We have developed novel patient-centred paediatric and adult CONFiRMs which include QoL measures. CONFiRMs should allow a more holistic understanding of response for the patient and a standardised assessment of the effectiveness of biologics between studies. Further research is needed to prospectively validate CONFiRM scores.</p>","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":" ","pages":""},"PeriodicalIF":16.6,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"TB or not TB: does AI have an answer for children?","authors":"Jacob Creswell, Rachel L Byrne, Tushar Garg","doi":"10.1183/13993003.01709-2024","DOIUrl":"https://doi.org/10.1183/13993003.01709-2024","url":null,"abstract":"","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":"64 5","pages":""},"PeriodicalIF":16.6,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Decoding genetic susceptibility to <i>Pseudomonas aeruginosa</i> infections in cystic fibrosis.","authors":"Anthony J Fischer, Christina S Thornton","doi":"10.1183/13993003.01224-2024","DOIUrl":"https://doi.org/10.1183/13993003.01224-2024","url":null,"abstract":"","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":"64 5","pages":""},"PeriodicalIF":16.6,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tetyana Kendzerska, Sachin R Pendharkar, Robert Talarico, Kenneth Blades, Constance Mackenzie, Andrea S Gershon, Najib Ayas, Marta Kaminska, Mark Fenton, Kerry A McBrien, Steven Hawken, Diana Ratycz, Vadym Lishchenko, Robert L Owens, Marcus Povitz
{"title":"Association between a recalled positive airway pressure device and incident cancer: a population-based study.","authors":"Tetyana Kendzerska, Sachin R Pendharkar, Robert Talarico, Kenneth Blades, Constance Mackenzie, Andrea S Gershon, Najib Ayas, Marta Kaminska, Mark Fenton, Kerry A McBrien, Steven Hawken, Diana Ratycz, Vadym Lishchenko, Robert L Owens, Marcus Povitz","doi":"10.1183/13993003.00560-2024","DOIUrl":"10.1183/13993003.00560-2024","url":null,"abstract":"<p><strong>Background: </strong>The real-world consequences of a Philips Respironics recall for positive airway pressure (PAP) devices distributed between 2009 and 2021 are unknown.</p><p><strong>Methods: </strong>We conducted a retrospective population-based study using health administrative databases (Ontario, Canada) on all new adult PAP users identified through the provincial funding system, free of cancer at baseline, who initiated (claimed) PAP treatment between 2012 and 2018. Everyone was followed from the PAP claim date to the earliest of incident cancer diagnosis, death or end of follow-up (March 2022). We used inverse probability of treatment weighting to balance baseline characteristics between individuals on recalled devices and those on devices from other manufacturers. Weighted hazard ratios of incident cancer were compared between groups.</p><p><strong>Results: </strong>Of 231 692 individuals identified, 58 204 (25.1%) claimed recalled devices and 173 488 (74.9%) claimed devices from other manufacturers. A meaningful baseline difference between groups (standardised difference ≥0.10) was noted only by location-relevant covariates; other variables were mostly equally distributed (standardised differences ≤0.06). Over a median (interquartile range) follow-up of 6.3 (4.9-8.0) years, 11 166 (4.8%) developed cancer: unadjusted rates per 10 000 person-years of 78.8 (95% CI 76.0-81.7) in the recall group <i>versus</i> 74.0 (95% CI 72.4-75.6) in others (p=0.0034). Propensity score weighting achieved excellent balance in baseline characteristics between groups (standardised differences ≤0.07). On a weighted sample, there was no statistical difference in the hazard of incident cancer between groups: cause-specific hazard ratio (recalled <i>versus</i> others) 0.97 (95% CI 0.89-1.06).</p><p><strong>Conclusion: </strong>In our real-world population study, compared to other manufacturers and adjusting for confounders, recalled Philips Respironics PAP devices do not appear to be independently associated with developing cancer.</p>","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":" ","pages":""},"PeriodicalIF":16.6,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Linn Löfberg, Thomas Abrahamsson, Lars J Björklund, Lena Hellström Westas, Aijaz Farooqi, Magnus Domellöf, Ulrika Ådén U, Christian Gadsbøll, Karin Källén, David Ley, Erik Normann, Karin Sävman, Anders Elfvin, Stellan Håkansson, Mikael Norman, Richard Sindelar, Fredrik Serenius, Petra Um-Bergström
{"title":"Respiratory support and bronchopulmonary dysplasia in infants born at 22-26 weeks gestation in Sweden, 2004-2007 and 2014-2016.","authors":"Linn Löfberg, Thomas Abrahamsson, Lars J Björklund, Lena Hellström Westas, Aijaz Farooqi, Magnus Domellöf, Ulrika Ådén U, Christian Gadsbøll, Karin Källén, David Ley, Erik Normann, Karin Sävman, Anders Elfvin, Stellan Håkansson, Mikael Norman, Richard Sindelar, Fredrik Serenius, Petra Um-Bergström","doi":"10.1183/13993003.01203-2024","DOIUrl":"https://doi.org/10.1183/13993003.01203-2024","url":null,"abstract":"<p><strong>Aim: </strong>To evaluate if increased survival and new ventilation strategies were accompanied by a changed incidence of bronchopulmonary dysplasia (BPD) in Sweden over a decade.</p><p><strong>Methods: </strong>Data from two Swedish population-based studies of live-born infants with gestational ages (GA) 22-26 weeks, born during 2004-2007 (n=702) and 2014-2016 (n=885), were compared for survival, any BPD, moderate BPD, severe BPD, and BPD/severe BPD or death at 36 weeks postmenstrual age (PMA). Ventilation strategies and interventions were analysed. Any BPD was defined as the use of supplemental oxygen or any respiratory support at 36 weeks PMA, moderate BPD as nasal cannula with <30% oxygen, and severe BPD as ≥30% oxygen, CPAP, or mechanical ventilation.</p><p><strong>Results: </strong>Survival to 36 weeks PMA increased from 72% to 81%(<i>p</i><0.001). Total days on mechanical ventilation increased from a median of 9 to 16 days (<i>p</i><0.001). The high-flow nasal cannula (HFNC) was introduced between the cohorts, and days of CPAP and HFNC increased from 44 to 50 days (<i>p</i><0.001). Any BPD was unchanged, 65% <i>versus</i> 68%. Moderate BPD increased from 37% to 47%(p=0.003), while incidence of severe BPD decreased from 28% to 23%(<i>p</i><0.046). Severe BPD or death decreased from 48% to 37%(<i>p</i><0.001) while any BPD or death remained unchanged at 74 <i>versus</i> 75%.</p><p><strong>Conclusion: </strong>Even though an increased survival of infants born at 22-26 weeks GA was accompanied by an increased duration of invasive and non-invasive respiratory support, the incidence of any BPD remained unchanged while severe BPD decreased in infants alive at 36 weeks PMA.</p>","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":" ","pages":""},"PeriodicalIF":16.6,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yet H Khor, Kerri A Johannson, Veronica Marcoux, Jolene H Fisher, Deborah Assayag, Helene Manganas, Nasreen Khalil, Daniel-Costin Marinescu, Nestor L Muller, Martin Kolb, Christopher J Ryerson
{"title":"Generalizability of pharmaceutical randomized controlled trial eligibility criteria for progressive pulmonary fibrosis.","authors":"Yet H Khor, Kerri A Johannson, Veronica Marcoux, Jolene H Fisher, Deborah Assayag, Helene Manganas, Nasreen Khalil, Daniel-Costin Marinescu, Nestor L Muller, Martin Kolb, Christopher J Ryerson","doi":"10.1183/13993003.01575-2024","DOIUrl":"https://doi.org/10.1183/13993003.01575-2024","url":null,"abstract":"<p><strong>Background: </strong>Progressive pulmonary fibrosis (PFF) is of substantial interest for novel pharmacotherapy discovery, but little is known about clinical trial eligibility criteria. We evaluated eligibility criteria of PPF randomized controlled trials (RCTs), their representativeness in registry patients, and forced vital capacity (FVC) changes and mortality according to trial eligibility.</p><p><strong>Methods: </strong>A systematic search was used to identify completed and in-progress phase II and III PPF RCTs. <i>Common clinical trial eligibility criteria</i> used in ≥60% of previous PPF RCTs were identified. The most common criteria for PPF used in RCTs (\"trial-PPF criteria\") and the clinical practice guideline definition of PPF (\"guideline-PPF criteria\") were both applied to patients enrolled in a prospective multicenter Canadian registry. Common trial eligibility criteria were tested for their frequency and association with health outcomes in registry patients who met trial-PPF and guideline-PPF criteria.</p><p><strong>Results: </strong>Ten different definitions of PPF were used in 16 RCTs. At the time of meeting PPF definitions, 50% of 864 patients with trial-PPF and 44% of 408 patients with guideline-PPF met the common trial eligibility criteria. For both definitions, trial-eligible patients had more rapid 1-year FVC decline but better transplant-free survival than trial-ineligible patients. Patients with unclassifiable interstitial lung disease (ILD) had higher proportion of trial exclusion compared to those with connective tissue disease-associated ILD and fibrotic hypersensitivity pneumonitis. Annual FVC decline (trial-PPF: -67 to -21 mL; guideline-PPF: -116 to -41 mL) and 1-year transplant-free survival (trial-PPF: 90.5 to 97.5%; guideline-PPF: 87 to 96.2%) varied in trial-eligible patients across ILD subtypes.</p><p><strong>Conclusions: </strong>Existing RCTs use a variety of definitions for PPF with eligibility criteria that have limited representativeness. FVC decline and transplant-free survival vary according to trial eligibility and ILD subtypes.</p>","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":" ","pages":""},"PeriodicalIF":16.6,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Laura Stourm, Julien Grynblat, Laurent Savale, Thomas Lacoste-Palasset, Xavier Jaïs, Florence Coulet, Marilyne Levy, Olivier Meyrignac, Maria-Rosa Ghigna, Vincent Cottin, Olivier Sitbon, Damien Bonnet, Francois Goupil, Marc Humbert, Frederic Gagnadoux, David Montani
{"title":"Pulmonary hypertension in patients carrying FLNA loss-of-function variants.","authors":"Laura Stourm, Julien Grynblat, Laurent Savale, Thomas Lacoste-Palasset, Xavier Jaïs, Florence Coulet, Marilyne Levy, Olivier Meyrignac, Maria-Rosa Ghigna, Vincent Cottin, Olivier Sitbon, Damien Bonnet, Francois Goupil, Marc Humbert, Frederic Gagnadoux, David Montani","doi":"10.1183/13993003.01132-2024","DOIUrl":"https://doi.org/10.1183/13993003.01132-2024","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary hypertension (PH) is an unusual complication of X-linked disease caused by loss-of-function (LOF) variants in the <i>filamin A</i> (<i>FLNA</i>) gene. Patients with <i>FLNA</i> LOF may also present dysmorphic facial features, aortic dilation, thrombopenia, and periventricular nodular heterotopia (PVNH).</p><p><strong>Methods: </strong>We reported clinical, functional, radiologic, and hemodynamic characteristics of patients with <i>FLNA</i> LOF variants and PH from the French PH Network.</p><p><strong>Results: </strong>Nine patients were identified with a female to male ratio of 8:1. PH was diagnosed at a median age of 36 [0-69] years. Associated conditions included epilepsy (n=5), PVNH (n=7), valvular heart disease (n=8), congenital heart diseases (n=4), thrombocytopenia (n=4), and hyperlaxity (n=4). Right heart catheterisation confirmed moderate-to-severe precapillary PH with a median mPAP of 33 [22-49] mmHg and PVR of 4.7 [2.4-8.0] WU. The DLCO was markedly decreased (48 [22-64] %pred) and five patients had obstructive ventilatory disorder. High-resolution CT showed heterogeneous parenchyma (n=8), emphysema (n=3), presence of a peripheral hyperclear band (n=3) and aortic ectasia (n=4). Pathologic assessment available in one patient revealed significant remodelling of small pulmonary arteries, interstitial edema, and irregular alveoli shapes. During follow-up, three patients died, including two from right heart failure. No patient died from aortic rupture.</p><p><strong>Conclusions: </strong>Precapillary PH, likely due to multiple mechanisms, may complicate the course of patients with LOF <i>FLNA</i> variants and may be the presenting symptom leading to diagnosis. The combination of PH with parenchymal involvement and extrapulmonary symptoms (epilepsy, congenital heart diseases, valvular and aortic involvement, thrombocytopenia) should prompt genetic screening for <i>FLNA</i>.</p>","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":" ","pages":""},"PeriodicalIF":16.6,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}