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Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature.

ABSTRACT: Erdheim-Chester disease (ECD) is an extremely rare and aggressive form of non-Langerhans cell histiocytosis. ECD usually presents with bone pain in adults aged 40-60. Its etiology is unknown but it is thought to be either a reactive or neoplastic disorder. Recently, mutation of the proto-oncogene BRAF (BRAFV600E) has been found in more than 50% of cases. The multisystemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. The common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, retroperitoneum, and skin. Current available treatment is interferon alpha as the first line of treatment. Treatment with other agents is based on anecdotal case reports. Cladribine, anakinra, and vemurafenib (BRAF inhibitor) are currently advocated as promising second-line treatments for patients whose response to interferon alpha is unsatisfactory. Herein, we are reporting a middle-aged Saudi male patient with an aggressive type of ECD and highlighting the clinical, radiological, and pathological manifestations associated with ECD and the various treatment options and patient follow-up.

SUBMITTER: Alotaibi S

PROVIDER: S-EPMC5498947 | biostudies-other | 2017 May-Aug

REPOSITORIES: biostudies-other

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Neurological manifestations of Erdheim-Chester Disease.

Project description:OBJECTIVE:To characterize the spectrum of neurologic involvement in Erdheim-Chester Disease (ECD), a treatable inflammatory neoplasm of histiocytes. METHODS:Sixty-two patients with ECD were prospectively enrolled in a natural history study that facilitated collection of clinical, imaging, laboratory, neurophysiologic, and pathologic data. RESULTS:Ninety-four percent of the patients had neurologic abnormalities on examination or imaging, and 22% had neurologic symptoms as the initial presentation of ECD. The most common neurologic findings were cognitive impairment, peripheral neuropathy, pyramidal tract signs, cranial nerve involvement, and cerebellar ataxia. Imaging revealed atrophy and demyelination along with focal lesions that were located throughout the nervous system, dura, and extra-axial structures. The BRAF V600E variant correlated with cerebral atrophy. Brain pathology revealed lipid-laden, phagocytic macrophages (histiocytes) accompanied by demyelination and axonal degeneration. INTERPRETATION:In patients with ECD, neurologic morbidity is common and contributes significantly to disability. Since neurologic symptoms can be the presenting feature of ECD and, given the mean delay in ECD diagnosis is 4.2 years, it is critical that neurologists consider of ECD and other histiocytosis in patients with inflammatory, infectious, or neoplastic-appearing white matter. Furthermore, given the broad spectrum of neurologic involvement, neurologists have an important role in a team of specialists treating ECD patients.

| S-EPMC7187721 | biostudies-literature

Tocilizumab in patients with multisystem Erdheim-Chester disease.

Project description:Treatment of Erdheim-Chester disease (ECD), a rare non-Langerhans histiocytosis, relies on interferon-?, chemotherapeutic agents such as purine analogs, cytokine-blocking agents and BRAF inhibitors. Since interleukin (IL)-6 levels are elevated in serum and lesions of ECD patients, we evaluated the therapeutic efficacy and safety of IL-6 blockade with tocilizumab. We conducted an open-label, single-arm, phase II, prospective study of tocilizumab in three patients with multisystem ECD and poor tolerance/contraindications to IFN-?. Modifications of symptoms attributed to ECD represented the criteria for evaluation of clinical response. Changes at positron emission tomography scan, computed tomography scan, and magnetic resonance imaging at month 6 represented the main criteria for the evaluation of radiological response. Sustained complete clinical response and partial radiological improvement were observed in two patients, paralleled by modulation of systemic pro-inflammatory mediators. In spite of disease stabilization or improvement at extra-neurological sites, a third patient experienced a radiologic and clinical progression of central nervous system involvement, mirrored by a dramatic increase of circulating IL-6 and related cytokines. These findings indicate that IL-6 inhibition can be effective in ECD, but caution is advisable in patients with neurologic involvement. IL-6 emerges as a central mediator in ECD pathogenesis.

| S-EPMC5486186 | biostudies-literature

Erdheim Chester disease in a patient with Burkitt lymphoma: a case report and review of literature.

Project description:BACKGROUND:Erdheim Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis characterized by widespread tissue infiltration by CD68-positive, CD1a-negative foamy histiocytes. ECD can be difficult to identify, and diagnosis relies on the presence of histiocytes with certain histologic and immunophenotypic features in an appropriate clinical and radiologic setting. Clinical signs and symptoms are variable depending on which organ systems are involved. Most patients have at least skeletal involvement with bone pain as well as fatigue. Other common manifestations include diabetes insipidus, cardiac, periaortic, or retro-orbital infiltration/fibrosis, kidney impairment, xanthelasmas, among others. CASE PRESENTATION:Herein, we describe a case of BRAF-mutation positive ECD in a patient with Burkitt lymphoma, and we review recent literature. CONCLUSION:Underlying BRAF and other MAPK pathway mutations are identified in approximately 50% of cases of ECD, which aids in diagnosis as well as enables novel targeted treatments. ECD patients have an increased risk of myeloid neoplasms; however, unlike other histiocytoses, an association with lymphoproliferative disorders has not been recognized.

| S-EPMC6260675 | biostudies-other

Erdheim-Chester Disease With Renal Involvement: A Case Report.

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

Genetics and clinical phenotype of Erdheim-Chester disease: A case report of constrictive pericarditis and a systematic review of the literature.

Project description:BackgroundErdheim-Chester disease (ECD) is a rare form of histiocytosis. An increasing number of genetic mutations have been associated with this syndrome, confirming its possible neoplastic origin. Recently, a connection between the BRAF mutational status and a specific phenotype was described; however, no studies have yet evaluated the correlations between other mutations and the clinical features of the disease.ObjectivesThis study aims to clarify the association between the clinical phenotype and genetic mutations identified in the neoplastic cell lines of ECD.MethodsWe describe a case of ECD characterized by pericardial involvement and a KRAS mutation shared with chronic myelomonocytic leukemia. Hence, through a meta-analysis of individual participant data of all genetically and clinically described cases of ECD in the literature, we aimed to elucidate the association between its clinical phenotype and baseline genetic mutations.ResultsOf the 760 studies screened, our review included 133 articles published from 2012 to April 2021. We identified 311 ECD patients whose genotype and phenotype were described. We found five main genes (BRAF, KRAS, NRAS, PIK3CA, and MAP2K1) whose mutation was reported at least three times. Mutation of BRAF led to a neurological disease (183 of 273 patients, 67%; p < 0.001); KRAS- and NRAS-mutated patients mainly showed cutaneous (five of six patients, 83.3%, p < 0.004) and pleural (four of nine patients, 44%, p = 0.002) involvement, respectively; PIK3CA was not associated with specific organ involvement; and MAP2K1 mutations caused the disease to primarily involve the peritoneum and retroperitoneum (4 of 11, 36.4%, p = 0.01).ConclusionThis work implies a possible influence of baseline mutation over the natural history of ECD, underscoring the importance of a thorough genetic analysis in all cases with the ultimate goal of identifying a possible targeted therapy for each patient.

| S-EPMC9403274 | biostudies-literature

Erdheim-Chester disease, moving away from the orphan diseases: A case report.

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

Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib.

Project description:PurposeWe report a patient with severe multi-organ dysfunction of unknown origin who presented with bilateral orbital and chorioretinal manifestations that led to the diagnosis of Erdheim-Chester Disease (ECD).ObservationsECD is a rare, histiocytic, proliferative disorder characterized by multi-systemic organ involvement that has historically lacked effective therapy. Our patient underwent genetic testing that was positive for the BRAF V600E mutation; therefore, the patient was treated with vemurafenib.Conclusions and importanceThis case demonstrates the rare orbital and intraocular manifestations of ECD and the unfortunate impact of a delayed diagnosis, the importance of early gene therapy testing for management decisions, and the utilization of targeted directed therapy to improve visual outcomes and quality of life.

| S-EPMC6076364 | biostudies-literature

Extensive Aortic Thromboembolism in a Patient With Erdheim-Chester Disease: A Case Report

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

Cardiac and pleuropulmonary involvement in Erdheim-Chester disease without bone lesions: A case report.

Project description:Erdheim-Chester disease is a rare multisystemic non-Langerhans histiocytosis characterized by histiocytes that stain positive for CD68 and negative for CD1a. Skeletal involvement is reported to be present in up to 96% cases and BRAF mutation in about half of the cases. Here, we report a patient with an unusual longstanding BRAF-negative Erdheim-Chester disease without bone lesions who developed pleuropulmonary and cardiac involvement.

| S-EPMC8688944 | biostudies-literature

Rare presentation of multiple thromboses in Erdheim-Chester disease: a case-based review.

Project description:BackgroundECD is a rare non-Langerhans cell histiocytosis with diverse and heterogeneous clinical manifestations, ranging from single-lesion forms to multi-system involvement, including slowly progressing unifocal forms to rapidly evolving life-threatening disease.Case presentationA female patient presented with a 2-month history of fever. Imaging revealed multiple thromboses, bone destruction, an abnormal pituitary stalk, and clinical manifestations of diabetes insipidus. Excisional biopsy of a tibial lesion was sent for microscopic examination, and subsequent immunohistochemical testing was positive for expression of CD68 and CD163, and negative for expression of the immune markers CD1a, S100, and langerin. This confirmed the diagnosis of ECD. Treatment with methylprednisolone to inhibit the immune inflammatory response along with anti-cytokine therapy with an interleukin-6 antagonist resulted in satisfactory disease control.ConclusionWe report a rare case of multiple thromboses, embolism, and multiple organ involvement as the main presentation of ECD, suggesting that ECD should be considered in patients presenting with multiple thromboses associated with multisystem damage. We successfully treated our patient with glucocorticoids and interleukin-6 antagonist. This patient's response to treatment suggests that hormone therapy and cytokine/chemokine therapy may be a potential novel treatment for patients with ECD without gene mutations.

| S-EPMC9588466 | biostudies-literature

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