Erdheim-Chester Disease Presenting with Histiocytic Colitis and Cytokine Storm

Background: Non-Langerhans histiocytosis is a group of inflammatory lymphoproliferative disorders originating from non-clonal expansion of hematopoietic stem cells into cytokine-secreting dendritic cells or macrophages. Erdheim-Chester Disease (ECD) is a rare type of non-Langerhans cell histiocytosis characterized by tissue inflammation and injury caused by macrophage infiltration and histologic findings of foamy histiocytes. Often ECD involves the skeleton, retroperitoneum and the orbits. This is the first report documenting ECD manifesting as segmental colitis and causing cytokine-release syndrome.Case presentation: A 68-year old woman presented with persistent fever without infectious etiology and hematochezia. Endoscopy showed segmental colitis and pathology revealed infiltration of large foamy histiocytes CD3-/CD20-/CD68+/CD163+/S100- consistent with ECD. The patient was empirically treated with steroids but continued to have fever and developed progressive distributive shock.Conclusion: This case report describes the differential diagnosis of infectious and immune-mediated inflammatory and rheumatologic segmental colitis. Non-Langerhans histiocytosis and ECD are rare causes of gastrointestinal inflammation. Prompt diagnosis is imperative for the appropriate treatment to prevent hemodynamic compromise due to distributive shock or gastrointestinal bleeding. Importantly, gastrointestinal ECD might exhibit poor response to steroid treatment and other potential treatments including chemotherapy, and biologic treatments targeting IL-1 and TNF-alpha signaling should be considered.Abbreviations: AFB: acid-fast bacilli; ECD: Erdheim-Chester Disease; IBD: inflammatory bowel disease; PASD: periodic acid-Schiff with diastase; TB: tuberculosis

Download Full-text

Myocardial Involvement in Erdheim-Chester Disease

Archives of Pathology & Laboratory Medicine ◽

10.5858/2004-128-682-miied ◽

2004 ◽

Vol 128 (6) ◽

pp. 682-685 ◽

Cited By ~ 4

Author(s):

Agnes G. Loeffler ◽

Vincent A. Memoli

Keyword(s):

Medical Center ◽

Rare Type ◽

Erdheim Chester Disease ◽

Myocardial Involvement ◽

Bony Involvement ◽

Systemic Manifestations ◽

Dartmouth Hitchcock Medical ◽

Erdheim Chester ◽

Chester Disease ◽

Radiologic Evidence

Abstract Erdheim-Chester disease (lipoid granulomatosis) is a rare type II (non-Langerhans cell) histiocytosis with systemic manifestations. The disease causes nonspecific disturbances in the function of multiple extraosseous organs, most commonly the eyes, lungs, pituitary gland, and kidneys. Diagnosis is usually made on the basis of radiologic evidence of cortical expansion of long bones. While the osseous and systemic changes have been well documented in the current literature, pathologic changes in the myocardium have not been well characterized since Erdheim and Chester's first description of this disease in 1930. In the 2 autopsy cases from Dartmouth-Hitchcock Medical Center (Lebanon, NH) reported in the present study, myocardial involvement was severe and had contributed significantly to the patients' morbidity and death. We describe the autopsy results and correlate them with Erdheim's original descriptions of this disease. In neither of our cases was bony involvement characteristic of the disease, and the diagnosis was made postmortem on the basis of soft tissue findings at autopsy.

Download Full-text

Erdheim-Chester Disease with No Skeletal Bone Involvement and Massive Weight Loss

Case Reports in Hematology ◽

10.1155/2017/3862052 ◽

2017 ◽

Vol 2017 ◽

pp. 1-6 ◽

Cited By ~ 1

Author(s):

Hind Salama ◽

Suleiman Kojan ◽

Shaima Abdulrahman ◽

Fahad Azzumeea ◽

Ayman Alhejazi

Keyword(s):

Cerebellar Atrophy ◽

Braf V600e Mutation ◽

Braf V600e ◽

Long Bone ◽

Common Symptom ◽

Rare Type ◽

Skeletal Involvement ◽

Erdheim Chester Disease ◽

Erdheim Chester ◽

Chester Disease

Erdheim-Chester disease (ECD) is a rare type of non-Langerhans cell histiocytosis, with only 550 cases reported worldwide. ECD is characterized by diffuse histiocytic infiltration of multiorgans. The age of presentation of this disease is typically between 40 and 70 years. Bone disease is the most common symptom, as unique radiological findings of long bone sclerosis occur in 96% of cases. Furthermore, BRAF V600E mutation is detected in 60% of ECD cases. In this manuscript, we are describing a unique case of ECD; the patient is younger than most reported cases and has no bone pain or any skeletal involvement. This patient has unintentionally lost about 50% of his body mass and is suffering from progressive cerebellar manifestations with radiological evidence of cerebellar atrophy, in contrast to the usual ECD manifestation of cerebellar infiltration. In addition, the patient has cardiac, retroperitoneal, and perinephric involvement, but he retains his sexual drive and fertility. A tissue biopsy from the retroperitoneal mass displayed typical morphological and immunohistochemical features of ECD, and BRAF V600E mutation was detected. He was treated with pegylated interferon alpha, but his disease progressed and the treatment was changed to vemurafenib to which he had an excellent response at 6 weeks.

Download Full-text

An unusual Erdheim-Chester disease with orbital involvement: a case report

Italian Journal of Medicine ◽

10.4081/itjm.2016.700 ◽

2016 ◽

Vol 10 ◽

Author(s):

Giuseppe Brunori ◽

Aurelio Seidita ◽

Lydia Giannitrapani ◽

Antonietta Serruto ◽

Francesco Bencivinni ◽

...

Keyword(s):

Poor Response ◽

Response To Therapy ◽

Erdheim Chester Disease ◽

Left Lateral Ventricle ◽

Temporal Horn ◽

History Of ◽

Total Body ◽

Erdheim Chester ◽

Chester Disease ◽

Maxillary Sinuses

Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis with multiorgan involvement and a specific tropism for perivascular and fatty connective tissue, of unclear origin, with poor response to therapy. Its identification is difficult because of the variable clinical presentation and its lack of knowledge. We report the case of a 63-years-old woman, with a history of bilateral orbital pseudotumor, who comes to our attention because of progressively worsening asthenia, vomiting and systemic inflammation. Total body computerized tomography scan showed a volumetric increase of choroid plexus of the temporal horn of the left lateral ventricle, presence of solid retrobulbar tissue at the level of both maxillary sinuses, lung fibrosis, and retroperitoneal and peri-aortic infiltration. The association of these signs addressed to a diagnosis of Erdheim- Chester disease. Thus, although extremely rare, the diagnosis of Erdheim-Chester disease must be considered in the case of bilateral retro-orbital tumors and multisystemic involvement.

Download Full-text

Treatment of Refractory Erdheim–Chester Disease with Double Autologous Hematopoietic Stem-Cell Transplantation

Annals of Internal Medicine ◽

10.7326/0003-4819-135-9-200111060-00027 ◽

2001 ◽

Vol 135 (9) ◽

pp. 844 ◽

Cited By ~ 49

Author(s):

Nicolas Boissel ◽

Bertrand Wechsler ◽

Véronique Leblond

Keyword(s):

Stem Cell ◽

Hematopoietic Stem Cell Transplantation ◽

Stem Cell Transplantation ◽

Cell Transplantation ◽

Hematopoietic Stem Cell ◽

Hematopoietic Stem ◽

Erdheim Chester Disease ◽

Erdheim Chester ◽

Chester Disease

Download Full-text

Erdheim-Chester Disease With Concurrent Lung Adenocarcinoma

Journal of Investigative Medicine High Impact Case Reports ◽

10.1177/2324709620918101 ◽

2020 ◽

Vol 8 ◽

pp. 232470962091810

Author(s):

Nadia Solomon ◽

Arne Landwehr ◽

Zerwa Farooq ◽

Garfield Gutzmore ◽

Horace Tang ◽

...

Keyword(s):

Primary Lung Cancer ◽

Disease Process ◽

Multiple Organ ◽

The Body ◽

Rare Type ◽

Erdheim Chester Disease ◽

Body Tissues ◽

Clinical Presentations ◽

Erdheim Chester ◽

Chester Disease

Erdheim-Chester disease (ECD) is a rare type of blood cancer characterized by infiltration of the body tissues by pathologic histiocytes, leading to widespread inflammation and damage. Clinical presentations range widely, from asymptomatic infiltration of bone to multiple organ system damage and resultant dysfunction. This report describes a case of a patient with several unusual imaging findings that led to a differential diagnosis of ECD; however, a biopsy of a mediastinal mass suspected to be due to histiocyte infiltration instead revealed primary lung cancer. Ultimately, ECD could not be ruled out, and the patient was referred to dermatology for a superficial facial xanthelasma biopsy, results of which were consistent with ECD. Concurrent ECD and adenocarcinoma is highly unusual; this case demonstrates the importance of a thorough investigation and the consideration that not all findings may be attributable to a single disease process, even when the alternative is very unlikely.

Download Full-text

Profound systemic alteration of the immune phenotype and an immunoglobulin switch in Erdheim–Chester disease in a single-center of 78 patients

Haematologica ◽

10.3324/haematol.2021.279118 ◽

2021 ◽

Author(s):

Fleur Cohen Aubart ◽

Lucie Poupel ◽

Flora Saint-Charles ◽

Frederic Charlotte ◽

Youssef Arsafi ◽

...

Keyword(s):

Immune Cells ◽

B Lymphocyte ◽

Immune Cell ◽

Control Group ◽

Single Center ◽

Hematopoietic Stem ◽

Immune Phenotype ◽

Erdheim Chester Disease ◽

Erdheim Chester ◽

Chester Disease

Erdheim–Chester disease (ECD) is a rare, systemic, non-Langerhans cell histiocytosis neoplasm, which is characterized by the infiltration of CD63+ CD1a- histiocytes in multiple tissues. The BRAFV600E mutation is frequently present in individuals with ECD and has been detected in hematopoietic stem cells and immune cells from the myeloid and systemic compartments. Immune cells and proinflammatory cytokines are present in lesions, suggesting ECD involves immune cell recruitment. Although a systemic cytokine Th-1-oriented signature has been reported in ECD, the immune cell network orchestrating the immune response in ECD has yet to be described. To address this question, the phenotypes of circulating leukocytes were investigated in a large, single-center cohort of 78 patients with ECD and compared with a group of 21 control individuals. Major perturbations in the abundance of systemic immune cells were detected in patients with ECD, with a decrease in circulating plasmacytoid, myeloid 1, and myeloid 2 dendritic cells, mostly in BRAFV600E carriers, in comparison with individuals in the control group. Similarly, a marked decrease in blood T-helper, cytotoxic, and B lymphocyte numbers was observed in patients with ECD, relative to the control group. Measurement of circulating immunoglobulin concentrations revealed an immunoglobulin G switch, from IgG1 to IgG4 subclasses, which are more frequently associated with the BRAF mutation. First-line therapies, including pegylated IFNlland vemurafenib, were able to correct most of these alterations. This study reports a profound disturbance in the systemic immune phenotype in patients with ECD, providing important new information and helping to understand the physiopathological mechanisms involved in this rare disease and in the therapeutic management of patients.

Download Full-text