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Diffuse Cystic Lung Disease

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Orphan Lung Diseases

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Abstract

The diffuse cystic lung diseases (DCLDs) are a broad group of disorders with varying etiologies that share the common radiologic and pathologic features of widely distributed, thin-walled, air-filled spaces within the pulmonary parenchyma. Although there is no consensus regarding an optimal classification scheme, for the purposes of this manuscript they are categorized as neoplastic, genetic, developmental, lymphoproliferative, autoimmune, environmental, and smoking associated. Many of the DCLDs have characteristic findings on HRCT that are useful in distinguishing between them, and that can even form the basis for a clinically confident diagnosis in some cases. The mechanisms of lung remodeling in the DCLDs are varied and poorly understood, but for several disorders, it appears that an inflammatory or infiltrative process destroys structures within the secondary lobule, including the alveolar septa, distal airways, and small vessels. Pulmonary function testing is typically normal early in the disease course, but airflow obstruction, hyperinflation, air trapping, and reduced diffusing capacity often develop over time. Clinical course and disease progression vary widely among the DCLDs and prognosis is dependent on underlying etiology. Obtaining a definitive diagnosis will become increasingly important as effective therapies and interventions become available.

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Authors and Affiliations

  1. Division of Pulmonary, Critical Care, and Sleep Medicine, Department of Internal Medicine, University of Cincinnati, Cincinnati, OH, USA

    Francis X. McCormack & Brian M. Shaw

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  1. Francis X. McCormack
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  2. Brian M. Shaw
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Correspondence to Francis X. McCormack .

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  1. Department of Respiratory Medicine, National Coordinating Reference Centre for Rare Pulmonary Diseases (OrphaLung), Louis Pradel Hospital, University of Lyon, Lyon, France

    Vincent Cottin

  2. Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Roma, Italy

    Luca Richeldi

  3. National Jewish Health, Denver, CO, USA

    Kevin Brown

  4. Division of Pulmonary, Critical Care, and Sleep Medicine Department of Internal Medicine, University of Cincinnati, Cincinnati, OH, USA

    Francis X. McCormack

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McCormack, F.X., Shaw, B.M. (2023). Diffuse Cystic Lung Disease. In: Cottin, V., Richeldi, L., Brown, K., McCormack, F.X. (eds) Orphan Lung Diseases. Springer, Cham. https://doi.org/10.1007/978-3-031-12950-6_20

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