Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey.BMC pulmonary medicine • November 18, 2024
Emil Moen, Thomas Prior, Michael Kreuter, Wim Wuyts, Maria Molina, Marlies Wijsenbeek, AntoniĂł Morais, Argyrios Tzouvelekis, Christopher Ryerson, Fabian Caro, Ivette Buendia Roldan, Jesper Magnusson, Joyce Lee, Julie Morisett, Justin Oldham, Lauren Troy, Manuela Funke Chambour, Maria Alberti, Raphael Borie, Simon L Walsh, Sujeet Rajan, Yasuhiro Kondoh, Yet Khor, Elisabeth Bendstrup
Background: Advances in the field of genetics of interstitial lung diseases (ILDs) have led to the recent consensus statements made by expert groups. International standards for genetic testing in ILD have not yet been established. We aimed to examine current real-world strategies employed by pulmonologists working with familial ILD.
Methods: A panel of pulmonologists with expertise in ILD developed an international survey aimed at clinicians working with ILD. The survey consisted of 74 questions divided into eight topics: characteristics of respondents, diagnosis, screening of first-degree relatives, screening tools, genetic testing methods, lung transplantation, ethical concerns, and future needs.
Results: Overall, 237 pulmonologists from 50 countries participated. A family history of ILD was asked for by 91% of respondents while fewer asked for symptoms related to telomere disorders. Respondents stated that 59% had access to genetic testing, and 30% to a genetic multidisciplinary team (MDT). Many respondents were unaware of specific genetic testing methods. Pathogenic genetic variants were seen as a potential contraindication for lung transplantation in 6-8% of respondents. Genetic screening of relatives was supported by 80% of respondents who indicated insufficient evidence and a lack of formal guidelines for genetics and ILD. Only 16% had a standardized program.
Conclusions: Most pulmonologists ask for a family history of ILD and recommend genetic testing for ILD and screening in relatives but have limited knowledge of specific tests and access to genetic MDT. Evidence-based guidelines to inform patients, relatives, and physicians are still warranted.
Geographic variability of interstitial lung disease diagnoses and impact of air pollution on disease outcomes.Respiratory Medicine • September 10, 2024
Annalise Bagust, Cheng Zhao, Lauren Troy, Joe Van Buskirk, Astrid Gardiner, Megan Harrison, Nathan Mortimer, Luke Knibbs, Tamera Corte
Background and
Objective: Anecdotal reports suggest interstitial lung disease (ILD) phenotypes vary regionally. We aimed to assess geographic variability of ILD diagnoses and impact of air quality on disease outcomes across the state of New South Wales, Australia.
Methods: Consecutive patients referred to an ILD multidisciplinary meeting, receiving referrals from across NSW (Feb 2014-Feb 2017), were included. Comparative frequencies of ILD diagnoses between regions were compared using Fisher's exact tests. Satellite-based land use regression models were used to estimate mean annual air pollution exposure for patients' home address at diagnosis. Associations between air pollution exposure and mortality and disease progression were assessed using multivariable Cox proportional hazard models.
Results: 437 ILD patients [mean age 67 ± 13 years; 41 % female, 48 % ever-smokers] were included. Air pollution at the year of diagnosis was 6.6 ± 2.0 μg/m3 for PM2.5, and 8.1 ± 4.2 ppb for NO2. Exposure to NO2 was significantly higher in major cities than in regional areas (p < 0.001), while exposure to PM2.5 did not differ significantly (p = 0.373). In regional and remote areas, relative frequency of hypersensitivity pneumonitis (HP) was 1.75 times higher (p = 0.078) than in major cities. Among 329 ILD patients with ≥6 months follow-up data, disease outcomes were associated with specific ILD diagnosis and baseline FVC, but not associated with air pollution exposure.
Conclusion: We found a trend towards higher relative frequency of HP and lower relative frequency of non-IPF IIP in regional and remote areas compared to major cities. There was no association between mean air pollution exposure at diagnosis and disease outcomes.
Usability of a smartphone application for patients with interstitial lung disease: Results from the Registry for Better Understanding of ILD (RE-BUILD) pilot study.Respirology (Carlton, Vic.) • May 03, 2024
Laura Glenn, Dan Jackson, Carly Barton, Doris Lan, Lisa Fuhrmeister, Karen Symons, Louise Turnour, Ben Tefay, Anne Holland, Nicole S Goh, Lauren Troy, Mark Brooke, Ian Glaspole, Tamera Corte
Objective: Digital technologies offer opportunities for remote monitoring, increased patient engagement and incorporation of patient-reported outcome measures (PROMs) into interstitial lung disease (ILD) care and research. This study evaluated the usability and patient experience of the RE-BUILD (Registry for Better Understanding of ILD) application, an ILD-specific smartphone app.
Methods: Patients with ILD aged ≥18 years were recruited from three tertiary ILD centres to use the RE-BUILD app for 6 months. The mHealth App Usability Questionnaire (MAUQ) was evaluated at 1, 3 and 6 months and patients received monthly prompts to enter clinical and PROM data. Qualitative interviews regarding patient experience were performed in a subset of 10.
Results: Fifty patients, with mean age 66.9 ± 10.3 years, 25 (50%) female were included. Participants used the app for a median of 48 (IQR 21-178.3) sessions, equivalent to 8 sessions (IQR 3.5-29.71) per month. Median number of days that the app was accessed was 37 (IQR 14-96.8), with 13 (26%) patients using the app >30 times per month. The most accessed app feature was physical activity, followed by 'air quality'. Participants agreed or strongly agreed that the app was easy to use (76.0%) easy to learn to use (79.8%) and well-organized with accessible information (74.8%). The median overall MAUQ score for usability was 5.69 (IQR 5.03-6.19). There was also a high rate of engagement with app functionalities.
Conclusions: RE-BUILD is a usable and intuitive platform for self-monitoring and data collection in ILD. Patients report a high degree of satisfaction and have provided valuable feedback for its further development.
Diagnosis and management of hypersensitivity pneumonitis in adults: A position statement from the Thoracic Society of Australia and New Zealand.Respirology (Carlton, Vic.) • April 28, 2024
Hayley Barnes, Tamera Corte, Gregory Keir, Yet Khor, Sandhya Limaye, Jeremy Wrobel, Elizabeth Veitch, John Harrington, Leona Dowman, Lutz Beckert, David Milne, Rebekah De Losa, Wendy Cooper, Peter Bell, Pradeep Balakrishnan, Lauren Troy
Hypersensitivity pneumonitis (HP) is an immune-mediated interstitial lung disease (ILD) relating to specific occupational, environmental or medication exposures. Disease behaviour is influenced by the nature of exposure and the host response, with varying degrees of lung inflammation and fibrosis seen within individuals. The differentiation of HP from other ILDs is important due to distinct causes, pathophysiology, prognosis and management implications. This Thoracic Society of Australia and New Zealand (TSANZ) position statement aims to provide an up-to-date summary of the evidence for clinicians relating to the diagnosis and management of HP in adults, in the Australian and New Zealand context. This document highlights recent relevant findings and gaps in the literature for which further research is required.
Implications of the 2022 lung function update and GLI global reference equations among patients with interstitial lung disease.Thorax • April 18, 2024
Andrew Li, Alan Teoh, Lauren Troy, Ian Glaspole, Margaret Wilsher, Sally De Boer, Jeremy Wrobel, Yuben Moodley, Francis Thien, Henry Gallagher, Michelle Galbraith, Daniel Chambers, John Mackintosh, Nicole Goh, Yet Khor, Adrienne Edwards, Karen Royals, Christopher Grainge, Benjamin Kwan, Gregory Keir, Chong Ong, Paul Reynolds, Elizabeth Veitch, Gin Chai, Ziqin Ng, Geak Tan, Dan Jackson, Tamera Corte, Helen Jo
Background: Lung function testing remains a cornerstone in the assessment and management of interstitial lung disease (ILD) patients. The clinical implications of the Global Lung function Initiative (GLI) reference equations and the updated interpretation strategies remain uncertain.
Methods: Adult patients with ILD with baseline forced vital capacity (FVC) were included from the Australasian ILD registry and the National Healthcare Group ILD registry, Singapore.The European Coal and Steel Community and Miller reference equations were compared with the GLI reference equations to assess (a) differences in lung function percent predicted values; (b) ILD risk prediction models and (c) eligibility for ILD clinical trial enrolment.
Results: Among 2219 patients with ILD, 1712 (77.2%) were white individuals. Idiopathic pulmonary fibrosis (IPF), connective tissue disease-associated ILD and unclassifiable ILD predominated.Median FVC was 2.60 (2.01-3.36) L, forced expiratory volume in 1 s was 2.09 (1.67-2.66) L and diffusing capacity of the lungs for carbon monoxide (DLCO) was 13.60 (10.16-17.60) mL/min/mm Hg. When applying the GLI reference equations, the mean FVC percentage predicted was 8.8% lower (87.7% vs 78.9%, p<0.01) while the mean DLCO percentage predicted was 4.9% higher (58.5% vs 63.4%, p<0.01). There was a decrease in 19 IPF and 119 non-IPF patients who qualified for the nintedanib clinical trials when the GLI reference equations were applied. Risk prediction models performed similarly in predicting mortality using both reference equations.
Conclusion: Applying the GLI reference equations in patients with ILD leads to higher DLCO percentage predicted values and smaller lung volume percentage predicted values. While applying the GLI reference equations did not impact on prognostication, fewer patients met the clinical trial criteria for antifibrotic agents.
