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      The world of rare interstitial lung diseases

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          Abstract

          The world of rare interstitial lung diseases (ILDs) is diverse and complex. Diagnosis and therapy usually pose challenges. This review describes a selection of rare and ultrarare ILDs including pulmonary alveolar proteinosis, pulmonary alveolar microlithiasis and pleuroparenchymal fibroelastosis. In addition, monogenic ILDs or ILDs in congenital syndromes and various multiple cystic lung diseases will be discussed. All these conditions are part of the scope of the European Reference Network on rare respiratory diseases (ERN-LUNG). Epidemiology, pathogenesis, diagnostics and treatment of each disease are presented.

          Abstract

          Many rare and ultrarare ILDs are underdiagnosed. Increasing insight into pathobiology, genetics and disease behaviour have led to better treatment options. Early consultation with or referral to expert centres (ERN-LUNG) is advised. https://bit.ly/3vwYrib

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          An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias.

          William Travis, Ulrich Costabel, David Hansell … (2013)
          In 2002 the American Thoracic Society/European Respiratory Society (ATS/ERS) classification of idiopathic interstitial pneumonias (IIPs) defined seven specific entities, and provided standardized terminology and diagnostic criteria. In addition, the historical "gold standard" of histologic diagnosis was replaced by a multidisciplinary approach. Since 2002 many publications have provided new information about IIPs. The objective of this statement is to update the 2002 ATS/ERS classification of IIPs. An international multidisciplinary panel was formed and developed key questions that were addressed through a review of the literature published between 2000 and 2011. Substantial progress has been made in IIPs since the previous classification. Nonspecific interstitial pneumonia is now better defined. Respiratory bronchiolitis-interstitial lung disease is now commonly diagnosed without surgical biopsy. The clinical course of idiopathic pulmonary fibrosis and nonspecific interstitial pneumonia is recognized to be heterogeneous. Acute exacerbation of IIPs is now well defined. A substantial percentage of patients with IIP are difficult to classify, often due to mixed patterns of lung injury. A classification based on observed disease behavior is proposed for patients who are difficult to classify or for entities with heterogeneity in clinical course. A group of rare entities, including pleuroparenchymal fibroelastosis and rare histologic patterns, is introduced. The rapidly evolving field of molecular markers is reviewed with the intent of promoting additional investigations that may help in determining diagnosis, and potentially prognosis and treatment. This update is a supplement to the previous 2002 IIP classification document. It outlines advances in the past decade and potential areas for future investigation.
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            Nintedanib in Progressive Fibrosing Interstitial Lung Diseases

            Kevin R. Flaherty, Athol Wells, Vincent Cottin … (2019)
            Preclinical data have suggested that nintedanib, an intracellular inhibitor of tyrosine kinases, inhibits processes involved in the progression of lung fibrosis. Although the efficacy of nintedanib has been shown in idiopathic pulmonary fibrosis, its efficacy across a broad range of fibrosing lung diseases is unknown.
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              Telomerase mutations in families with idiopathic pulmonary fibrosis.

              Mary Y Armanios, Julian J-L Chen, Joy D Cogan … (2007)
              Idiopathic pulmonary fibrosis is progressive and often fatal; causes of familial clustering of the disease are unknown. Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis. To test the hypothesis that familial idiopathic pulmonary fibrosis may be caused by short telomeres, we screened 73 probands from the Vanderbilt Familial Pulmonary Fibrosis Registry for mutations in hTERT and hTR. Six probands (8%) had heterozygous mutations in hTERT or hTR; mutant telomerase resulted in short telomeres. Asymptomatic subjects with mutant telomerase also had short telomeres, suggesting that they may be at risk for the disease. We did not identify any of the classic features of dyskeratosis congenita in five of the six families. Mutations in the genes encoding telomerase components can appear as familial idiopathic pulmonary fibrosis. Our findings support the idea that pathways leading to telomere shortening are involved in the pathogenesis of this disease. Copyright 2007 Massachusetts Medical Society.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Eur Respir Rev
                Journal ID (iso-abbrev): Eur Respir Rev
                Journal ID (publisher-id): ERR
                Journal ID (hwp): errev
                Title: European Respiratory Review
                Publisher: European Respiratory Society
                ISSN (Print): 0905-9180
                ISSN (Electronic): 1600-0617
                Publication date Collection: 31 March 2023
                Publication date (Electronic): 08 February 2023
                Volume: 32
                Issue: 167
                Electronic Location Identifier: 220161
                Affiliations
                [1 ]Center for Interstitial and Rare Lung Diseases, Thoraxklinik, University of Heidelberg, German Center for Lung Research (DZL), ERN-LUNG, Heidelberg, Germany
                [2 ]National Reference Centre for Rare Pulmonary Diseases, Louis Pradel Hospital, Hospices Civils de Lyon, UMR 754, Claude Bernard University Lyon 1, ERN-LUNG, Lyon, France
                [3 ]Center for Interstitial Lung Diseases and Sarcoidosis, Department of Respiratory Medicine, Erasmus MC-University Medical Center, ERN-LUNG, Rotterdam, The Netherlands
                Author notes
                Corresponding author: Michael Kreuter ( kreuter@ 123456uni-heidelberg.de )
                Author information
                https://orcid.org/0000-0002-5591-0955
                https://orcid.org/0000-0003-4402-2159
                https://orcid.org/0000-0003-0746-357X
                Article
                Publisher ID: ERR-0161-2022
                DOI: 10.1183/16000617.0161-2022
                PMC ID: 9910344
                PubMed ID: 36754433
                SO-VID: b494109e-3a4b-4fe3-99da-13f14e9eb85f
                Copyright © Copyright ©The authors 2023
                License:

                This version is distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0. For commercial reproduction rights and permissions contact permissions@ersnet.org

                History
                Date received : 8 September 2022
                Date accepted : 21 December 2022
                Categories
                Subject: Series
                Subject: The World of Rare Lung Diseases
                Subject: 13

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