ADOPTING ORPHAN DISEASES RARE INTERSTITIAL LUNG DISEASES

adoptingorphandiseaseskapak

AN OVERVIEW OFRARE INTERSTITIAL LUNG DISEASES

Göksel Altınışık1 Francis X. McCormack2

1Pamukkale University, Faculty of Medicine, Department of Chest Diseases, Denizli, Türkiye
2Cincinnati University, Faculty of Medicine, Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep Medicine, Cincinnati, USA

Altinisik G, McCormack FX. An Overview of Rare Interstitial Lung Diseases. In: Altinisik G, McCormack FX, editors. Adopting Orphan Diseases: Rare Interstitial Lung Diseases. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.1-7.

ABSTRACT

While ILDs represent a heterogeneous group of over 200 disorders, rare forms are often grouped under the ambiguous “others” category in classification systems, making them difficult to identify. In today’s era of personalized medicine, it is increasingly important to reflect individualized approaches within disease classifications as well. This book aims to provide a comprehensive approach to rare interstitial lung diseases (rare ILDs), exploring their diagnosis, treatment options, integration into medical education, and the patient perspective.

By focusing on the concepts of rare and “orphan” diseases, conditions that have low prevalence and often suffer from a lack of clinical or research interest, this book seeks to systematically increase awareness and recognition. Delays and difficulties in diagnosis are common in rare ILDs, often due to insufficient knowledge. Thus, integrating these diseases into undergraduate medical education and strengthening their presence in postgraduate training is essential, the methods should be enriched.

Given the key role of imaging in diagnosis, an early chapter of the book is devoted to radiological clues specific to rare ILDs, offering a foundational perspective before exploring individual disease groups. The book categorizes rare ILDs into four major groups: alveolar filling disorders, cystic lung diseases, familial ILDs, and other uncommon conditions. Each chapter begins with a case vignette to highlight the clinical relevance of the topic, followed by theoretical content and concludes with a case analysis and a few reflective questions to reinforce understanding.

Beyond its scientific content, the book also emphasizes other important dimensions: the patient experience, educational gaps and recommendations, end-of-life management, telemedicine opportunities, and an example of social and scientific collaboration (LAM Foundation). Pulmonary rehabilitation, a modality often overlooked yet potentially impactful, and lung transplantation are also discussed, highlighting the need to both improve current practice and shape future directions.

Ultimately, this book is designed as the seed of a snowball, small but powerful, aiming not only to address rare ILDs from a scientific standpoint but also to embrace patients, caregivers, and physicians as part of a shared human context, fostering a sense of ‘adopting’ these orphan conditions.

Keywords: Interstitial lung diseases; Rare interstitial lung diseases; Orphan diseases; Computerized tomography; Patient perspective; Education; Lung transplantation; End of life management; Future perspective

Referanslar

  1. American Thoracic Society; European Respiratory Society. American Thoracic Society/European Respiratory Society International Multidisciplinary Consensus Classification of the Idiopathic Interstitial Pneumonias. This joint statement of the American Thoracic Society (ATS), and the European Respiratory Society (ERS) was adopted by the ATS board of directors, June 2001 and by the ERS Executive Committee, June 2001. Am J Respir Crit Care Med. 2002;165(2):277- [Crossref]  [PubMed]
  2. Travis WD, Costabel U, Hansell DM, King TE Jr, Lynch DA, Nicholson AG, et al. An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias. Am J Respir Crit Care Med. 2013;188(6):733-48. [Crossref]  [PubMed]
  3. Raghu G, Remy-Jardin M, Richeldi L, Thomson CC, Inoue Y, Johkoh T, et al. Idiopathic Pulmonary Fibrosis (an Update) and Progressive Pulmonary Fibrosis in Adults: An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline. Am J Respir Crit Care Med. 2022;205(9):e18-e47. [Crossref]  [PubMed]
  4. Ryerson CJ, Collard HR. Update on the diagnosis and classification of ILD. Curr Opin Pulm Med. 2013;19(5):453-9. [Crossref]  [PubMed]
  5. Karampitsakos T, Wijsenbeek M, Herazo-Maya JD, Tzouvelekis A, Kreuter M. Interstitial lung diseases: an overview. In: Rare Diseases of the Respiratory System. Vol. 2023. 100th ed. Sheffield, UK: European Respiratory Society; 2023:23-39. [Crossref]  [PubMed]
  6. Carroz KP, Urrutia-Royo B, Marin A, Pons LR, Millán-Billi P, Rosell A, et al. Rare interstitial lung diseases: a narrative review. J Thorac Dis. 2024;16(9):6320-38. [Crossref]  [PubMed]  [PMC]
  7. Cordier JF. Maladies orphelines pulmonaires de la curiosité à la sollicitude [Orphan lung diseases: from curiosity to concern]. Bull Acad Natl Med. 2004;188(5):755-65. [PubMed]
  8. Cottin V, Cordier JF, Richeldi L, eds. Orphan Lung Diseases: A Clinical Guide to Rare Lung Disease. London: Springer London; 2015. [Crossref]  [PubMed]
  9. Aronson JK. Rare diseases and orphan drugs. Br J Clin Pharmacol. 2006;61(3):243-5. [Crossref]  [PubMed]  [PMC]
  10. Spagnolo P, du Bois RM, Cottin V. Rare lung disease and orphan drug development. Lancet Respir Med. 2013;1(6):479- [Crossref]  [PubMed]
  11. Orphan Drug Act Relevant Excerpts. Last updated 2013. [Internet] (accessed at 27.08.2025) industry/designating-orphan-product-drugs-and-biologi- cal-products/orphan-drug-act-relevant-excerpts [Link]
  12. Balbi B, Vallese D, Chavannes N, Stallberg B, Baiardi P. General practitioners and rare lung diseases: a task force for the development of rare lung diseases educational material. Breathe (Sheff). 2016;12(4):341-348. [Crossref]  [PubMed]  [PMC]
  13. Weston M, Manning J. Forgotten conditions: misdiagnosed and unsupported, how patients are being let down. September, 2012. (Accessed at 28.08.2025) wp-content/uploads/2020/11/2020health_Forgotten-Condi- tions_20-09-12.pdf [Link]
  14. Boerner EB, Bonella F. Pulmonary alveolar microlithiasis: An ultra-rare disease. In: Sorino C, Agati S, Danoff SK, Bonella F, Scichilone N, Mondoni M, editors. Rare and Interstitial Lung Diseases. Elsevier; 2024: 171-82. [Crossref]  [PubMed]
  15. Buschulte K, Cottin V, Wijsenbeek M, Kreuter M, Diesler R. The world of rare interstitial lung diseases. Eur Respir Rev. 2023;32(167):220161. Published 2023 Feb 7. [Crossref]  [PubMed]  [PMC]