A Fatal Case of Erdheim-Chester Disease with Hepatic Involvement

Balasubramanian, Gokulakrishnan; Modiri, Alexandra N.; Affi, Marina; Hagen, Catherine; Batdorf, Bjorn; Oshima, Kiyoko; Michaelis, Laura C.; Saeian, Kia

doi:10.14309/crj.2017.95

Cited by 4 publications

(3 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…1 A few cases of histiocytosis associated with peritoneal/mesenteric tumours have been reported. [2][3][4][5][6][7][8][9] CT scans or MRI are good imaging modalities for the detection of peritoneal/…”

Section: Introduction and Objectivesmentioning

confidence: 99%

Peritoneal or mesenteric tumours revealing histiocytosis

Cohen‐Aubart

Ungureanu

Razanamahery³

et al. 2021

BMJ Open Gastroenterol

View full text Add to dashboard Cite

ObjectivePeritoneal or mesenteric tumours may correspond to several tumour types or tumour-like conditions, some of them being represented by histiocytosis. This rare condition often poses diagnostic difficulties that can lead to important time delay in targeted therapies. Our aim was to describe main features of histiocytoses with mesenteric localisation that can improve the diagnostic process.DesignWe performed a retrospective study on 22 patients, whose peritoneal/mesenteric biopsies were infiltrated by histiocytes.ResultsAbdominal pain was the revealing symptom in 10 cases, and 19 patients underwent surgical biopsies. The diagnosis of histiocytosis was proposed by initial pathologists in 41% of patients. The other initial diagnoses were inflammation (n=7), sclerosing mesenteritis (n=4) and liposarcoma (n=1). The CD163/CD68+CD1a- histiocytes infiltrated subserosa and/or deeper adipose tissues in 16 and 14 cases, respectively. A BRAFV600E mutation was detected within the biopsies in 11 cases, and two others were MAP2K1 mutated. The final diagnosis was histiocytosis in 18 patients, 15 of whom had Erdheim-Chester disease. The median diagnostic delay of histiocytosis was 9 months. Patients treated with BRAF or MEK inhibitors showed a partial response or a stable disease. One patient died soon after surgery, and five died by the progression of the disease.ConclusionDiagnosis of masses arising in the mesentery should be carefully explored as one of the possibilities in histiocytosis. This diagnosis is frequently missed on mesenteric biopsies. Molecular biology for detecting the mutations in BRAF or in genes of the MAP kinase pathway is a critical diagnostic tool.

show abstract

Section: Introduction and Objectivesmentioning

confidence: 99%

Peritoneal or mesenteric tumours revealing histiocytosis

Cohen‐Aubart

Ungureanu

Razanamahery³

et al. 2021

BMJ Open Gastroenterol

View full text Add to dashboard Cite

show abstract

“…To the best of our knowledge, there are only 5 previously reported cases with hepatic involvement of ECD and there is variation in the nature of hepatic involvement among these as well. Previously reported presentations include liver fibrosis presenting with decompensated cirrhosis [5], xanthogranulomatous lesions of the bile duct masquerading as Klatskin's tumor [6], hepatomegaly with histiocytic infiltration of the liver [7], or hepatic nodules with histiocytic infiltrates on biopsy [8,9].…”

Section: Discussionmentioning

confidence: 99%

Erdheim-Chester disease associated with an aggressive form of sclerosing cholangitis

Sharma

Stone²,

Macfarlane³

et al. 2023

Egypt Liver Journal

View full text Add to dashboard Cite

Background Erdheim-Chester disease (ECD) is a rare histiocytic disorder recently recognized as a neoplasm due to the discovery of activating MAPK pathway mutations. Hepatic involvement by ECD is extremely rare. Case presentation We describe a case of a 64-year-old male who presented with pruritis, weight loss, and cholestatic liver function tests. Magnetic resonance imaging of the abdomen showed beaded appearance of the intrahepatic biliary tree. A liver biopsy was suggestive of primary or secondary sclerosing cholangitis. Computerized tomography (CT) of the abdomen showed perinephric and periaortic soft tissue stranding suggestive of ECD. 18F-fluorodeoxyglucose positron emission/computerized tomography scan showed a mediastinal hilar mass which turned out to be follicular lymphoma. Histopathology of molluscum-like skin lesions showed CD68 + , Factor XIIIa + , and CD1a-foamy histiocytes with multiple giant cells suggestive of ECD. The patient developed recurrent episodes of ascending cholangitis and his hyperbilirubinemia continued to worsen despite stenting of a common hepatic duct stricture found on endoscopic retrograde cholangiopancreatography. Conclusions The absence of associated inflammatory bowel disease and anti-neutrophil cytoplasmic antibody, as well as the rapidity of disease progression, makes us consider the possibility of hepatic involvement by ECD or an overlap syndrome. We want to highlight that negative histopathology should not delay the diagnosis of ECD as effective and potentially lifesaving therapies with BRAF or MEK pathway inhibitors are now available for these patients.

show abstract

“…Поражение пе чени при БЭЧ наблюдается редко. Сообщается о случае с диагностированным изолированным поражением печени у пациентки 56 лет с неблагоприятным исходом заболевания [27]. Есть сообщение об изолированном поражении мышц [28].…”

Section: клиническая картина и диагностикаunclassified

Erdheim–Chester disease. Literature review and clinical case

et al. 2020

View full text Add to dashboard Cite

Erdheim–Chester disease (ECD) is a rare and frequently neglected disease, usually with a poor prognosis. The first two cases of ECD were reported by Austrian pathologist: Jakob Erdheim and his apprentice student William Chester in 1930. The etiology and disease incidence are unknown. One of the main components of this disorder is a chronic uncontrollable inflammation. Clinical manifestations of the disease can be very different. ECD affects predominantly adults, usually male population. There is no effective treatment developed yet. In 2016 ECD was classified as histiocytic neoplasm by the World Health Organization and was categorized as “tumors of histiocytes and dendritic cells”. More than half of patients testing positive for the BRAF mutation. There is a Erdheim–Chester Disease Global Alliance (ECDGA), which try to unite and provide with information about diagnostics and treatment of this rare disease both patients and doctors. Today, there are 571 registered patients and only one from Russia. The final diagnosis is made on the basis of histological finding such as infiltration with foamy histiocytes, signs of inflammation and Touton giant cells. Immunohistological analysis is usually CD68 and XIIIa positive. There are radiological finding indicating a possible association with the disease. There is this specific, almost pathognomonic scintigraphic picture of the skeleton, “coated” aorta, “hairy kidney” patterns on computer tomography. We demonstrate a clinical case of a patient with a newly diagnosed ECD with bone and connective tissue involvement, with manifestation of this disease more than 10 years ago. It took four months to make the final diagnosis. There were three biopsies and a wide range of other diagnostic procedures.

show abstract

A Fatal Case of Erdheim-Chester Disease with Hepatic Involvement

Cited by 4 publications

References 11 publications

Peritoneal or mesenteric tumours revealing histiocytosis

Peritoneal or mesenteric tumours revealing histiocytosis

Erdheim-Chester disease associated with an aggressive form of sclerosing cholangitis

Erdheim–Chester disease. Literature review and clinical case

Contact Info

Product

Resources

About