Cardiac and pleuropulmonary involvement in Erdheim-Chester disease without bone lesions: A case report.
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SUBMITTER: Kanza RE
PROVIDER: S-EPMC8688944 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Erdheim-Chester disease is a type of non-Langerhans cell histiocytosis. It is a rare, multisystem disorder with unknown etiology. Heterogeneity of the clinical symptoms makes the diagnosis challenging. On the other hand, knowing the signs and radiological findings of the disease helps to establish a correct diagnosis. In this article, we present a 51-year-old male patient with skeletal and urinary system manifestations who finally underwent right nephrectomy due to renal insufficiency. The diagnosis was suspected by the retroperitoneal infiltrative process and radiological findings of the tubular bones. Erdheim-Chester disease diagnosis was confirmed with CD68(+) CD1a(-) histiocytes detected by immunohistochemical analysis of the nephrectomy specimen.
| S-EPMC6190995 | biostudies-other
Project description: Not available
| S-EPMC4712276 | biostudies-literature
Project description:Erdheim-Chester disease (ECD) is a rare form of systemic histiocytosis, typically presenting with striking osseous involvement characterized by bilateral osteosclerosis and involvement of organs such as the lung, pituitary gland, heart, and brain. Liver involvement with ECD is extremely uncommon. We report a 56-year-old woman presenting with newly diagnosed cirrhosis and signs concerning for intra-abdominal malignancy, including omental caking and peritoneal thickening. Liver biopsy demonstrated xanthogranulomatous infiltration from ECD. The patient showed initial improvement with interferon therapy, but she developed severe depression, which led to the discontinuation of the treatment. Shortly afterward, she died from progressive liver dysfunction resulting in hepatorenal syndrome.
| S-EPMC5541758 | biostudies-other
Project description: Not available
| S-EPMC10582375 | biostudies-literature
Project description:With approximately 750 cases reported, Erdheim-Chester disease is an exceedingly rare histiocyte cell disorder. Affected sites typically include long bones, large vessels and central nervous system. However, cutaneous and pulmonary involvement can also occur. The diagnosis is ascertained by identification of foamy histiocytes positive for CD68, CD163, and factor XIIIa on immunoperoxidase staining. Recently published literature have described an association between Erdheim-Chester disease and BRAF V600E mutation. This finding prompted the investigation of therapeutic possibilities with BRAF inhibitors, successful agents against other BRAF mutation-positive diseases. Vemurafenib, a BRAF kinase inhibitor, has been shown to be effective in BRAF V600E mutation-positive malignancies, such as NSCLC and melanoma, as well as in several case reports of Erdheim-Chester disease. We report a case of Erdheim-Chester disease diagnosed at our institution, treated with vemurafenib.
| S-EPMC5153444 | biostudies-literature
Project description:Background Erdheim-Chester disease (ECD) is a rare disease that affects multiple systems and is characterized by non-Langerhans cell histiocytosis. Classic clinical signs include long bone infiltration, central nervous system involvement, diabetes insipidus, and sheathing of the entire aorta. However, thrombosis is not recognized as a typical cardiac manifestation of ECD. Here, we report the case of an ECD patient with extensive arterial thrombus formation and embolism in several sections of the aorta. Case A 36-year-old woman was admitted due to recurrent fever and left finger cyanosis for 20 days. Laboratory tests revealed that her C-reactive protein and interleukin-6 levels were significantly elevated. Thoracic computed tomographic angiography (CTA) revealed thrombosis from the aortic arch to the left subclavian artery accompanied by severe stenosis of the left subclavian artery. Abdominal CTA revealed splenic infarction due to splenic artery embolism and thrombus formation in multiple abdominal arteries. She underwent emergent arterial thrombectomy. During hospitalization, she complained of polyuria. The desmopressin test and pituitary magnetic resonance imaging findings suggested diabetes insipidus. Furthermore, positron emission tomography-computed tomography and bone emission computed tomography showed long bone impairment, and pathological examination of the bone samples confirmed ECD. Steroids and tocilizumab were selected as the initial therapies; however, thrombosis continued to develop. After replacement of tocilizumab with interferon-α, her condition became stable. Conclusion Although extremely rare, fatal thrombosis may be a significant cardiovascular manifestation of ECD.
| S-EPMC9139267 | biostudies-literature
Project description:Erdheim-Chester disease (ECD) is a rare histiocytosis of the "L" (Langerhans) group with multisystem involvement that can affect the large and medium-sized arteries mimicking vasculitis. Aortic involvement is common but the frequency and outcome of aortic branch vessel abnormalities are less well described.Patients with ECD were retrospectively identified. Images containing information of arterial involvement within 6 months of diagnosis were considered baseline and compared to last follow-up studies. Two physicians independently reviewed the studies to evaluate for presence of abnormalities attributable to ECD. Age and sex-adjusted logistic regression models were used to examine associations between patient characteristics and vessel involvement at baseline.Among a cohort of 64 patients with ECD, 63 had baseline imaging of vascular structures. ECD involvement of at least 1 segment of the aorta was observed in 56%. Abnormalities were also observed in aortic arch branches (26%), visceral branch arteries (40%), iliofemoral arteries (31%), coronary (5%), and pulmonary (3%) arteries. Perinephric fibrosis was strongly associated with the identification of abnormalities in the thoracic aorta (OR 4.92 [1.54, 15.75]; P?=?.007), abdominal aorta (OR 7.57 [2.28, 25.07]; P?=?.001) and visceral branch arteries (OR 6.05 [1.52, 24.03]; P?=?.01) but not pelvic/lower extremity arteries. Complete normalization of arterial abnormalities at follow-up was only observed in 9% or less of arterial segments involved at baseline.Aortic and aortic branch vessel abnormalities are frequently observed in patients with ECD and are often asymptomatic. Partial and/or complete resolution of arterial findings is uncommon.
| S-EPMC6310516 | biostudies-literature
Project description:Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis characterized by infiltration of organs by CD68+ and CD1a- lipid-laden histiocytes, including the central nervous system in more than a third of patients. Molecular analysis of ECD samples has demonstrated the prevalence of BRAF V600E mutations as high as 54%. Recently, vemurafenib became the only Food and Drug Administration-approved treatment for patients with ECD who carry the BRAF V600E mutation. However, dabrafenib has been suggested to have greater brain distribution. We describe a 44-year-old female patient treated from August of 2015 through November 2017. She presented with a 2-year history of light-headedness, fatigue, and vertigo. She was moderately dysmetric, diffusely hyperreflexic, and dysarthric in the bilateral upper and lower extremities. Her gait was wide-based. She had dysarthria and nystagmus on horizontal gaze bilaterally. Magnetic resonance imaging showed an extensive area of increased T2/fluid-attenuated inversion recovery signal in the brain stem, enhancement in the pons and midbrain, and thickening of the pituitary stalk. Positron emission tomography/computed tomography (PET/CT) and whole-body technetium Tc99m bone scintigraphy showed intense symmetrical radiotracer uptake in the distal femur and tibia bilaterally, which was biopsied. Immunohistochemistry was negative for BRAF V600E, but genomic sequencing revealed the mutation. The patient received combination therapy with dabrafenib and trametinib. Her nystagmus, dysarthria, dysmetria, and gait improved remarkably. Subsequent PET/CT and magnetic resonance imaging showed complete resolution of all radiographic evidence of disease. In this case report, we demonstrate the success of a combination therapy with dabrafenib and trametinib.
| S-EPMC6132217 | biostudies-literature
Project description:BackgroundErdheim-Chester disease (ECD) is a rare multisystem disorder that primarily affects adults. It is characterized by the excessive production and accumulation of histiocytes, a type of white blood cell, within multiple tissues and organs, including the cardiovascular system. The infiltration of histiocytes can cause a range of cardiovascular symptoms, including pericardial effusion, myocardial infiltration, and heart failure, among others. Despite the potential severity of these cardiovascular manifestations, ECD is often misdiagnosed or underdiagnosed, leading to delays in appropriate treatment and poor outcomes for patients. As such, there is a pressing need for increased awareness and understanding of ECD's cardiovascular manifestations among clinicians and researchers. This article aims to highlight the importance of considering ECD as a potential underlying cause of cardiovascular complaints and to encourage further investigation into this uncommon but potentially life-threatening condition.Case summaryA 63-year-old man presented as outpatient complaining of dyspnoea on exertion during the last 3 weeks (New York Heart Association functional class III). He had also experienced a left shoulder and bilateral knee pain over the last 6 months. The patient was found to have a massive pericardial effusion associated with ECD. While pericardial effusions can have various causes, including infection, cancer, and autoimmune disorders, ECD is one potential cause of this condition. Therefore, it is important for clinicians to consider ECD in the differential diagnosis of patients presenting with unexplained pericardial effusions, particularly in the context of other systemic symptoms suggestive of ECD. We discuss about this specific aetiology and the clinical management of this uncommon condition.DiscussionErdheim-Chester disease, a non-Langerhans cell histiocytosis, is a rare multisystem disorder. Diagnosis is challenging and should be suspected in the presence of a pericardial effusion with conduction abnormalities with indicators of a multisystem disease.
| S-EPMC10797487 | biostudies-literature
Project description:Erdheim-Chester disease (ECD) is a rare systemic disease characterized by non-Langerhans histiocytosis. Pituitary involvement, often manifesting as diabetes insipidus, is the most common central nervous system (CNS) lesion. However, significant mass formation compressing the optic apparatus is rarely reported. We present a case of ECD-related suprasellar mass treated with an endoscopic transnasal approach, with emphasis on the surgical strategy and the intraoperative findings. The mass was fibrous, significantly hard, and strongly adhered to the optic nerves, causing visual impairment. A subtotal resection was performed with preserving the adhesion between the mass and the optic nerves, and her visual symptoms improved remarkably after surgery. We highlight the surgical procedure of ECD-related suprasellar mass, from an endoscopic point of view. Due to strong adhesion of the mass to the surrounding optic apparatus and perforators, complete resection may be harmful; judicious mass reduction with preserving such adhesion would contribute to better visual outcomes.
| S-EPMC8769389 | biostudies-literature