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Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge

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Rare Diseases Epidemiology: Update and Overview

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1031))

Abstract

Rare lung diseases encompass a broad spectrum of conditions and affect an estimated 1.2–2.5 million people in North America and 1.5–3 million people in Europe. While individual rare lung diseases affect less than 1 in 2000 individuals, collectively they have a significant impact upon the population at large. Hence it is vital to understand firstly the epidemiology and subsequently the pathogenesis and clinical course of these disorders. Through a greater understanding of these aspects of disease, progress can be made in reducing symptoms, containing healthcare costs and utilizing resources efficiently. Furthermore, a greater understanding of the pathobiology of rare lung diseases can inform both the pathogenesis and management of more common pulmonary disorders.

In this chapter we review how epidemiological approaches and the utilization of patient registries has improved the knowledge and management of rare lung diseases. We further focus on the epidemiology of several of the more widely known rare pulmonary disorders, including idiopathic pulmonary fibrosis (IPF), cystic fibrosis (CF) and alpha-1 antitrypsin deficiency (AATD). To conclude we describe how patient advocacy groups and foundations have driven advances in research and management of ultra-rare lung diseases, namely, the major strides made in the management and understanding of lymphangioleiomyomatosis (LAM) and pulmonary alveolar proteinosis (PAP).

We conclude that the models used to study some of the rarest of diseases may be successfully adopted by other rare and common disease communities, leading to improved care and the possibility of novel therapeutic options.

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Authors and Affiliations

  1. Division of Pulmonary, Critical Care and Sleep Medicine, University of Cincinnati, Cincinnati, OH, 45267-0564, USA

    Cormac McCarthy & Francis X. McCormack

  2. Translational Pulmonary Science Center Cincinnati Children’s Hospital, 3333 Burnet Avenue, CCRF S4621, 45229-3039, Cincinnati, OH, USA

    Cormac McCarthy & Bruce C. Trapnell

  3. Rare Lung Diseases Clinical (RLDC), Cincinnati, OH, USA

    Cormac McCarthy & Bruce C. Trapnell

  4. Respiratory Medicine Department, Coventry University Hospital, Third Floor, East wing. Clifford Bridge Road, Coventry, CV2 2DX, Warwickshire, UK

    Beatriz Lara Gallego

  5. Medicine and Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Avenue, CCRF R4029, 45229-3039, Cincinnati, OH, USA

    Bruce C. Trapnell

Authors
  1. Cormac McCarthy
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  2. Beatriz Lara Gallego
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  3. Bruce C. Trapnell
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  4. Francis X. McCormack
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Correspondence to Cormac McCarthy .

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Editors and Affiliations

  1. RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain

    Manuel Posada de la Paz

  2. Centro Nazionale Malattie Rare, Istituto Superiore di Sanita, Roma, Italy

    Domenica Taruscio

  3. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA

    Stephen C. Groft

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McCarthy, C., Lara Gallego, B., Trapnell, B.C., McCormack, F.X. (2017). Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_24

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