Cardiovascular involvement in Erdheim–Chester disease

European Heart Journal, 2022

International Journal of Cardiology, 2014

Circulation journal : official journal of the Japanese Circulation Society, 2016

Insights into Imaging, 2014

Background Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits. Methods Both radiography and technetium-99m bone scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. For visceral involvement, computed tomography (CT) is most useful, while magnetic resonance (MR) imaging is more sensitive for cardiovascular lesions; 2-[fluorine-18] fluoro-2-deoxy-d-glucose (FDG) positron emission tomography (PET)/CT scanning is useful in assessing the extension of ECD lesions. Results The prognosis is extremely variable and is often worse when there is cardiovascular system involvement. Diagnosis is based on the combination of radiographic, CT, MR imaging and nuclear medicine features and a nearly pathognomonic immunohistochemical profile. Conclusion The aims of this work are to perform a systematic review of Erdheim-Chester disease as seen on imaging of the chest, abdomen and musculoskeletal system and to discuss the diagnostic workup and differential diagnoses according to the imaging presentation. Teaching points • Bone involvement is usually present in patients, and the imaging findings are pathognomonic of ECD. • The circumferential periaortic infiltration may extend to its branches, sometimes becoming symptomatic. • Cardiac involvement-the pericardium, right atrium and auriculoventricular sulcus-worsens its prognosis. • Perirenal infiltration extending to the proximal ureter is highly suggestive of this disease. Keywords Erdheim-Chester disease. Osteoclerosis. Hairy kidney sign. Coated aorta Abbreviations ECD Erdheim-Chester disease FDG 2-[Fluorine-18] fluoro-2-deoxy-d-glucose PET positron emission tomography LCH Langerhans cell histiocytosis C. Antunes (*) : B. Graça : P. Donato

European Journal of Case Reports in Internal Medicine, 2016

Erdheim-Chester disease (ECD) is a non-Langerhans' histiocytosisand a veryrare multisystemic disease of unknown aetiology, with skeletal involvement of the long bones and in more than 50% of cases with extraskeletal involvement. The disease was described in 1930 by the anatomopathologist Jakob Erdheim and his student William Chester. More than 500 cases have since been reported. We report the case of a 77-year-old Italian woman with ECD who was admitted to hospital for acute cardiac tamponade. The patient presented with simultaneous cutaneous, retro-orbital, skeletal, cerebral and cardiovascular manifestations and was successfully treated with corticosteroids followed by interferon. LEARNING POINTS • Erdheim-Chester disease (ECD) is a non-Langerhans' histiocytosisand a very rare multisystemic disease that is thought to be associated with cytokine disturbances. • ECD has a variable prognosis but is poorer in those with heart involvement. • First-line treatment involves the administration of interferon alpha.

International Journal of Research in Medical Sciences

Erdheim–Chester disease (ECD) is a rare, non-inherited, non- Langerhans form of histiocytosis of unknown origin, first described in 1930. This entity is defined by a mononuclear infiltrate consisting of lipid laden, foamy histiocytes that stain positively for CD68. Individuals affected by this disease are typically adults between their 4th and 6th decades of life. The multi systemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. The most common presenting symptom of ECD is bone pain. Bilateral symmetric increased tracer uptake on 99mTc bone scintigraphy affecting the periarticular regions of the long bones is highly suggestive of ECD. However, definite diagnosis of ECD is established only once CD68(+), CD1a(−) histiocytes are identified within a biopsy s...

Blood, 2016

are acknowledged for their expert clinical and technical assistance.

BMJ case reports, 2015

Erdheim-Chester disease (ECD) is a rare xanthogranulomatous disorder characterised by the proliferation of lipid laden histiocytes along with infiltration of various organs of the body. Although commonly presenting with bone pains secondary to bony infiltration, cardiac involvement in the form of periaortic fibrosis and pericardial involvement may be seen in a subgroup of patients. We report a case of ECD presenting as recurrent pericardial effusion along with pericardial tamponade.

BMC Gastroenterology, 2011

Background Erdheim-Chester disease (ECD) is a rare multisystem non-Langerhans cell histiocytosis that is characterized histologically by xanthogranulomatous infiltrates and radiologically by symmetrical sclerosis of long bones. The xanthomatous process is characterized by prominent foamy histiocytes staining positive for CD68, occasionally for PS100 and negative for S100 and CD1a. Gastroenterological involvement is exceedingly rare. Case Presentation This case report describes the case of a 69-year-old man who presented otherwise well to the gastroenterology department with unspecific abdominal symptoms, nausea, vomiting and weight loss. ECD involving the gastrointestinal tract was confirmed clinically, radiologically and histologically. Conclusion Gastroenterological manifestation of ECD is rare but should be considered in the differential diagnosis in patients presenting with evidence of multi-organ disease and typical radiological features of Erdheim-Chester disease elsewhere.

Clinical Imaging, 2009

Erdheim-Chester disease is an infiltrative form of histiocytosis characterized by replacement of normal tissues by lipid-laden histiocytes. The disease typically infiltrates the medullary portion of the diaphysis and metaphysis of long bones, producing a characteristic radiological pattern dominated by bone sclerosis. It usually affects adults of 40 years of age with a clinical spectrum ranging from an asymptomatic focal bone lesion to multisystemic disease. This case report documents unique imaging and pathologic findings of Erdheim-Chester disease using close postmortem pathologic-imaging correlation.

Journal of the Royal Society of Medicine, 2005

A 73-year-old man was referred to the internal medicine department. His complaints were lifelessness and physical deconditioning since one and a half year. Laboratory results showed microcytic anaemia and raised inflammatory markers. A gastroscopy, colonoscopy and bone marrow aspiration could not reveal any suspicious findings. 18FDG-PET/CT imaging was performed. Imaging Findings CT imaging of the legs shows medullar osteosclerosis with cortical thickening, affecting the diaphysis and metaphysis. High FDG uptake in the corresponding areas on 18FDG-PET imaging (1a, b). CT imaging of thorax and abdomen shows soft tissue infiltration around the aorta (2a-e), expanding into the left and right paravertebral space (2a-c). Note the retrosternal (2a) and pleural soft tissue infiltration (2b). The adrenal glands are swollen with soft tissue infiltration of the adjacent fat. Increased FDG tracer uptake in the adrenal glands, around the aorta and in the stomach (2d). Soft tissue infiltration in the left and right perirenal and posterior pararenal space ('hairy kidney' sign), expanding into the renal sinuses (2e). A left-sided hypermetabolic spot anterior to the middle cerebral artery and a high FDG tracer uptake in the small bones of the feet on 18FDG-PET imaging, with no corresponding lesions on CT imaging (3a, b).

Circulation, 2007

A 64-year-old woman was referred to the arrhythmia outpatient clinic after she had experienced syncope without preceding symptoms and frequent paroxysmal, near syncopal episodes over the last 8 months. The ECG revealed alternation of sinus bradycardia and frequent ectopic atrial beats, normal PR interval and right bundle branch block with consecutive repolarization abnormalities. Holter ECG showed frequent periods of asystole up to 4.3 seconds. Laboratory findings were normal. Pacemaker therapy for symptomatic sinus node dysfunction was clearly indicated.

Clinical Rheumatology, 2016

Erdheim-Chester disease, although rare, has a wide range of manifestations. It is characterized by the xanthomatous infiltration of tissues by spumous histiocytes, surrounded by fibrosis. The symptoms can vary from bone pain, diabetes insipidus, exophthalmos, xanthelasmas, cardiovascular involvement, bilateral adrenal enlargement, renal impairment, testis infiltration, interstitial lung disease to retroperitoneal fibrosis with perirenal and/or ureteral obstruction. We present eight cases, four of them with only breast involvement and the others with bone, cardiovascular, central nervous system, and renal involvement. All showed infiltrates of histiocytes and fibrosis on microscopic evaluation and positive CD68 and negative CD1a on immunohistochemical stains.

Respiratory medicine case reports, 2017

Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis that usually involves the bones, heart, central nervous system, retroperitoneum, eyes, kidneys, skin and adrenals. Lungs are affected in up to one-half cases; at CT scan various patterns are described: interstitial disease, consolidations, micronodules and microcysts, with or without pleural involvement. We presented a case of a 59 year-old man with unusual intrathoracic manifestation of Erdheim-Chester disease. Singularities of our report are the lonely thoracic involvement at the onset of the disease and a histiocytic lesion in the posterior mediastinum.

2016

Copyright © 2015 Shahzaib Nabi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. A 48-year-old woman with a past medical history of seizures and end-stage renal disease secondary to obstructive uropathy from retroperitoneal fibrosis presented to the emergency department with seizures and altered mental status. A Glasgow Coma Scale of 4 prompted intubation, and she was subsequently admitted to the intensive care unit. Magnetic resonance imaging of the brain performed to elucidate the aetiology of her seizure showed a dural-based mass within the left temporoparietal lobe as well as mass lesions within the orbits. Further imaging showed extensive retroperitoneal fibrosis extending to the mediastinum with involvement of aorta and posterior pleural space. Imaging of the long bones showed bilateral sclerosis and cortica...