Erdheim-Chester Disease: Pulmonary Presentation in a Case with Advanced Systemic Involvement

Abstract

Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis usually affecting bone, that may progress to multi-organ involvement, with pulmonary involvement as an indicator of poor prognosis. Herein, we present a 48-year-old man with a 2-year history of progressive exertional dyspnoea, dry cough, malaise and exophthalmos. High-resolution computed tomography showed peripheral interstitial thickening with a lymphangitic distribution throughout both lungs, suspected of representing lymphangitic spread of neoplasia. Transbronchial biopsy specimen and bronchoalveolar lavage were non-diagnostic; thus, a surgical lung biopsy was performed which showed features diagnostic of ECD. Subsequent systematic investigations showed widespread bone involvement, cardiac involvement manifested as left heart failure and renal/perirenal disease. Treatment with pulsed corticosteroids and cyclophosphamide elicited neither clinical nor functional response, with death at 6 months. This case highlights the aggressive nature of ECD when there is pulmonary involvement, as well as problems in diagnosis when there is pulmonary presentation and when systemic disease is asymptomatic.

Erdheim-Chester disease: CT findings of thoracic involvement

“…Centrilobular and ground-glass opacities, observed less frequently than in previous publications [9,16], reflect the consequence of the infiltration along the peribronchiolar and perivascular bundles and the accumulation of foamy macrophages in the alveoli. Small areas of coalesced microcystic lesions in zones with severe and extensive disease represent localised honeycombing or fibrotic changes in destroyed lung and have been already reported in the literature [9,12,13]. However, isolated thin-walled cysts scattered throughout the non-fibrotic lung raises the question of the interrelationship between ECD and LCH.…”

“…Among the various visceral manifestations of ECD, neurological and cardiac involvement has been described as indicators of poor prognosis [1,2]. Although radiological features of pleuropulmonary, mediastinal and cardiovascular involvement have been described previously [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16], the precise frequencies of their associations in patients remain unknown. The aim of this study was to evaluate the association among mediastinal, cardiac, pleural and pulmonary infiltration on computed tomography (CT) in a large series of 40 patients with biopsy-proven ECD.…”

Pathologic Review of Cystic and Cavitary Lung Diseases

“…Pulmonary LCH may appear as cystic with nodules, and Erdheim-Chester disease (ECD) shares pathologic features, such as xanthogranulomatous inflammation with foamy macrophages (Fig. 2O, P), and radiologically can present as symmetric, diffuse, interstitial lung disease with interlobular septal thickening 49. Pulmonary involvement of LCH is much common in adults, but occurs in nearly half of young children with multisystem LCH.…”

A Thirty-Four-Year-Old Woman with Chronic Dyspnea and Pulmonary Interlobular Septal Thickening

“…Initial analysis of case reports suggested a 3-year mortality rate of 57% [3], but a more recent case series of consecutive patients reported a 13-year mortality rate of 26% [6]. It is not known if pulmonary involvement constitutes a prognostic factor [1,6,9]. …”