Interferon-Alpha in Cardiac Erdheim-Chester Disease

International Journal of Cardiology, 2012

Erdheim-Chester disease is a rare non-Langerhans histiocytosis of unknown etiology characterized by the proliferation of lipid-containing foamy histiocytes infiltrating bones and potentially every organs. Although cardiovascular manifestations may be life-threading, they are often overlooked. In the current letter to the editor, we have described a middle-age man with Erdheim-Chester disease and peculiar cardiovascular manifestations which raised the suspicious of this rare entity, prompting further radiologic investigations which ultimately helped to achieve the diagnosis.

SAS Journal of Medicine

Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytic multisystem disorder due to xanthogranulomatous infiltration of tissues by spumous histiocytes, It typically presents with diffuse bone pain however the cardiac manifestation are common and occur to 75% of the patients. It is frequently asymptomatic and detected incidentally on radiological imaging and it most commonly manifests as pericardium and myocardium infiltration We report the case of a 66-year-old woman patient, admitted for diffuse bone pain, asthenia and a left arm weakness who presented and infiltration of the aorta with a coated aspect, a thickened right atrium and a small pericardial effusion.

International Journal of Cardiology, 2014

The British Journal of Radiology, 2019

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis which can have a broad range of clinical and radiological presentations. Typically, ECD affects multiple organ systems, with skeletal involvement present in almost all ECD patients and cardiothoracic manifestations in more than half. Cardiac and thoracic involvement contributes significantly to morbidity and mortality in affected patients and may have prognostic implications. The diagnosis of ECD can be challenging due to its rarity and similarity to other systemic disease processes. Although the diagnosis can be suggested on imaging, histopathology and immunohistochemistry are required for confirmation. We describe the multimodal imaging features of mediastinal, cardiac, pleural and lung parenchymal ECD. This review identifies the most common radiological manifestations of cardiac and thoracic ECD on contrast-enhanced CT, fluorine18-fludeoxyglucose positron emission tomography/CT and cardiac MRI, and highligh...

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.

Radiology, 2015

Echocardiography, 2018

Erdheim-Chester disease is a rare, multisystem, non-Langerhans histiocytosis. Erdheim-Chester disease was first described in 1930 and since then <600 cases have been reported in the medical literature. 1 Erdheim-Chester disease can affect any age group or sex but is generally seen in adults with a male predominance; mean age at diagnosis is 55 years. 2 While the pathophysiology is still not completely understood, recent studies have shown that Erdheim-Chester disease is often associated with a somatic mutation of the BRAF gene that causes activation of histiocytes via pro-inflammatory interleukins. 3,4 Diagnosis of Erdheim-Chester disease is made by histopathologic features, radiographic findings, and characteristic organ system involvement. Erdheim-Chester disease typically involves an infiltration of lipid laden macrophages, multinucleated giant cells, lymphocytes, and histiocytes in the bone marrow resulting in sclerosis of the long

European Journal of Echocardiography, 2010

Medizinische Klinik (Munich, Germany : 1983), 2006

Erdheim-Chester disease is a rare non-Langerhans&#39; cell histiocytosis of unknown etiology with typical osteosclerotic long-bone findings. However, clinical symptoms are mostly due to disease involvement of other tissues, particularly of the lung, heart and retroperitoneum. A 58-year-old man presented with fatigue, diffuse pain of the lower extremities, dyspnea, and a dry cough. Physical examination was unremarkable. Chest X-ray revealed an extensive bilateral pulmonary inter interstitial process. Computed tomography demonstrated pulmonary fibrosis, periaortic fibrosis of the thoracic aorta, and retroperitoneal fibrosis. The diagnosis of Erdheim-Chester disease was confirmed by minimally invasive lung biopsy. Steroid therapy was not tolerated. Following a stable interval of 18 months there was a disease progression, which could be stabilized after the initiation of cyclophosphamide therapy. In patients with extensive pulmonary fibrosis and coincidence of other organ manifestations...

European Heart Journal, 2022