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Open AccessArticle

Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim–Chester Disease

1
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
2
Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
3
Radiology and Imaging Sciences, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA
4
Laboratory of Diagnostic Radiology Research, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA
5
Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
*
Author to whom correspondence should be addressed.
These authors contributed equally to the preparation of the manuscript.
J. Clin. Med. 2018, 7(9), 243; https://doi.org/10.3390/jcm7090243
Received: 27 July 2018 / Revised: 17 August 2018 / Accepted: 21 August 2018 / Published: 28 August 2018
(This article belongs to the Section Pulmonology)
Limited information is available regarding interstitial lung disease (ILD) in Erdheim–Chester disease (ECD), a rare multisystemic non-Langerhans cell histiocytosis. Sixty-two biopsy-confirmed ECD patients were divided into those with no ILD (19.5%), minimal ILD (32%), mild ILD (29%), and moderate/severe ILD (19.5%), based on computed tomography (CT) findings. Dyspnea affected at least half of the patients with mild or moderate/severe ILD. Diffusion capacity was significantly reduced in ECD patients with minimal ILD. Disease severity was inversely correlated with pulmonary function measurements; no correlation with BRAF V600E mutation status was seen. Reticulations and ground-glass opacities were the predominant findings on CT images. Automated CT scores were significantly higher in patients with moderate/severe ILD, compared to those in other groups. Immunostaining of lung biopsies was consistent with ECD. Histopathology findings included subpleural and septal fibrosis, with areas of interspersed normal lung, diffuse interstitial fibrosis, histiocytes with foamy cytoplasm embedded in fibrosis, lymphoid aggregates, and focal type II alveolar cell hyperplasia. In conclusion, ILD of varying severity may affect a high proportion of ECD patients. Histopathology features of ILD in ECD can mimic interstitial fibrosis patterns observed in idiopathic ILD. View Full-Text
Keywords: Erdheim–Chester disease; Factor XIIIa; interstitial lung disease; non-Langerhans cell histiocytosis; pulmonary fibrosis Erdheim–Chester disease; Factor XIIIa; interstitial lung disease; non-Langerhans cell histiocytosis; pulmonary fibrosis
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Haroutunian, S.G.; O’Brien, K.J.; Estrada-Veras, J.I.; Yao, J.; Boyd, L.C.; Mathur, K.; Gahl, W.A.; Mirmomen, S.M.; Malayeri, A.A.; Kleiner, D.E.; Jaffe, E.S.; Gochuico, B.R. Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim–Chester Disease. J. Clin. Med. 2018, 7, 243.

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