A case of Erdheim–Chester disease initially mistaken for Ormond's disease

Loddenkemper, K.; Hoyer, Bimba F.; Loddenkemper, Christoph; Hermann, Kay-Geert A.; Rogalla, P.; Forster, G; Buttgereit, Frank; Hiepe, Falk; Burmester, Gerd‐Rüdiger

doi:10.1038/ncprheum0677

Cited by 11 publications

(6 citation statements)

References 14 publications

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“…We investigated whether it was inducible in vivo by monitoring Siglec-1 expression before and during therapy with IFN␣2a in a patient newly diagnosed as having Erdheim-Chester disease (43). The patient received IFN␣2a (3 ϫ 10 6 IU) subcutaneously 3 times per week.…”

Section: Resultsmentioning

confidence: 99%

Sialic acid–binding Ig‐like lectin 1 expression in inflammatory and resident monocytes is a potential biomarker for monitoring disease activity and success of therapy in systemic lupus erythematosus

Biesen¹,

Demir²,

Barkhudarova³

et al. 2008

Arthritis & Rheumatism

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175

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Objective. Type I interferon (IFN) plays a pivotal role in the pathogenesis of systemic lupus erythematosus (SLE) and is therefore considered a potential therapeutic target. This study was undertaken to establish a feasible biomarker for IFN effects with respect to disease activity and effectiveness of IFN-suppressive therapy in SLE patients.Methods. Transcriptomes of purified monocytes from 9 SLE patients and 7 healthy controls were analyzed by Affymetrix GeneChip technology. Levels of sialic acid-binding Ig-like lectin 1 (Siglec-1) (sialoadhesin, CD169) in inflammatory and resident monocytes were determined at the protein level in 38 healthy controls and 52 SLE patients, using multicolor flow cytometry.Results. Transcriptomes of peripheral monocytes from SLE patients revealed a dominant type I IFN signature. Siglec-1 was identified as one of the most prominent type I IFN-regulated candidate genes. At the protein level, the frequency of Siglec-1-expressing monocyte subsets was correlated with disease activity (as measured by the SLE Disease Activity Index) and was inversely correlated with levels of complement factors. Most interestingly, levels of anti-doublestranded DNA (anti-dsDNA) antibodies were highly correlated with the percentage of resident monocytes, but not inflammatory monocytes, expressing Siglec-1. High-dose glucocorticoid treatment resulted in a dramatic reduction of Siglec-1 expression in cells from patients with active SLE.Conclusion. Our findings indicate that Siglec-1 expression in resident blood monocytes is a potential biomarker for monitoring disease activity, displaying type I IFN responses, and estimating levels of antidsDNA antibodies. Moreover, our results suggest that resident and inflammatory monocytes contribute differently to the process of autoantibody formation in SLE.

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Section: Resultsmentioning

confidence: 99%

Sialic acid–binding Ig‐like lectin 1 expression in inflammatory and resident monocytes is a potential biomarker for monitoring disease activity and success of therapy in systemic lupus erythematosus

Biesen¹,

Demir²,

Barkhudarova³

et al. 2008

Arthritis & Rheumatism

Self Cite

175

149

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“…A variety of drugs have been used like steroids, cyclophosphamide, vinblastine, vincristine, adriamycin, colchicine and interferon-1α with different clinical responses [4, 6, 7, 13, 15, 16]. In our case, the first choice of treatment was pulsed steroids as there are reports of partial response [5, 6], but we found no improvement.…”

Section: Discussionmentioning

confidence: 62%

“…Our review of the literature, including this case, identified 6 more patients with ECD and definite pulmonary involvement [5,6,7,8,9], of whom 3 had a poor outcome, highlighting its aggressive nature once the lungs are involved. Other recent cases with multisystemic involvement had variable outcomes [10,11,12,13,14,15], and a review of the literature suggests 250 published reports [14]. It is also interesting to note the cardiac involvement which, although not as well described as pulmonary involvement, may be an additional adverse prognostic indicator.…”

Section: Discussionmentioning

confidence: 99%

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

Protopapadakis

Αντωνίου²,

Nicholson³

et al. 2008

Respiration

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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.

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“…Sporadic reports have described glucocorticoids, cyclophosphamide, vincristine, adriamycin, colchicine and radiotherapy as effective against ECD due to the low frequency of this disorder [6,7,11,12,13]. In our patient, the first-choice treatment was systemic corticosteroids.…”

Section: Discussionmentioning

confidence: 78%

Erdheim-Chester Disease Presenting with Pneumothorax

2011

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Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis most commonly characterized by symmetrical skeletal involvement and may present with pulmonary involvement leading to chronically progressive pulmonary symptoms. Characteristics on chest radiography include non-specific findings of diffuse interstitial and pleural thickening, micronodules, ground-glass opacities and parenchymal condensation as a result of infiltration by lipid-laden histiocytes. We present the case of a 50-year-old man with ECD presenting with acute pulmonary symptoms due to rupture of a large cystic lesion with resultant pneumothorax. He was brought by ambulance to our hospital, complaining of acute anterior chest pain and severe dyspnea. Chest radiography showed right-sided pneumothorax with a collapsed lung, a large, left-sided cystic lesion in the upper lung field and accentuated interstitial markings. Bullectomy and surgical biopsy were performed, demonstrating histologically histiocytic infiltrates that were strongly positive for CD68, but negative for S-100 protein and CD1a. Subsequent systemic examinations indicated widespread symmetrical skeletal involvement, leading to a definitive diagnosis of ECD.

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A case of Erdheim–Chester disease initially mistaken for Ormond's disease

Abstract: Treatment with glucocorticoids failed. The patient's symptoms improved significantly after initiation of interferon-alpha therapy.

Cited by 11 publications

References 14 publications

Sialic acid–binding Ig‐like lectin 1 expression in inflammatory and resident monocytes is a potential biomarker for monitoring disease activity and success of therapy in systemic lupus erythematosus

Sialic acid–binding Ig‐like lectin 1 expression in inflammatory and resident monocytes is a potential biomarker for monitoring disease activity and success of therapy in systemic lupus erythematosus

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

Erdheim-Chester Disease Presenting with Pneumothorax

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