scholarly journals Diagnosing a Patient with Erdheim-Chester Disease during the COVID-19 Pandemic

Medicina ◽  
2021 ◽  
Vol 57 (10) ◽  
pp. 1001
Author(s):  
Georgia Kaiafa ◽  
Dimitrios Pilalas ◽  
Triantafyllia Koletsa ◽  
Stylianos Daios ◽  
Georgios Arsos ◽  
...  

Background: Erdheim-Chester disease (ECD) is a rare hematopoietic neoplasm of histiocytic origin characterized by an insidious course. The coronavirus disease 2019 (COVID-19) pandemic has put an enormous strain on healthcare systems worldwide both directly and indirectly, resulting in the disruption of healthcare services to prevent, diagnose and manage non-COVID-19 disease. Case Presentation: We describe the case of a 58-year-old male patient with sporadic episodes of self-resolving mild fever and anemia of chronic disease with onset two years before the current presentation. Positron emission/computed tomography scan revealed the presence of moderately hypermetabolic perirenal tissue masses. In order to achieve diagnosis, repeated perirenal tissue biopsies were performed, and the diagnostic evaluation was complicated by the strain put on the healthcare system by the COVID-19 pandemic. The patient contracted SARS-CoV-2 and required hospitalization, but recovered fully. No further ECD target organ involvement was documented. Treatment options were presented, but the patient chose to defer treatment for ECD. Conclusion: A high index of suspicion and multidisciplinary team collaboration is paramount to achieve diagnosis in rare conditions such as ECD. Disruptions in healthcare services in the pandemic milieu may disproportionately affect people with rare diseases and further study and effort is required to better meet their needs in the pandemic setting.

2017 ◽  
Vol 10 (2) ◽  
pp. 501-507 ◽  
Author(s):  
Sultan Alotaibi ◽  
Osama Alhafi ◽  
Hatem Nasr ◽  
Khalid Eltayeb ◽  
Ghaleb Elyamany

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.


2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Julien Sarkis ◽  
Fady Haddad ◽  
Sarah Nasr ◽  
Elie Hanna ◽  
Ahmad Mroueh ◽  
...  

Erdheim-Chester disease (ECD) is a rare non-Langerhans cells histiocytosis characterized by multiorgan involvement, with renal-ECD documented in over one-third of patients. Renal disease is generally asymptomatic, rarely causing hydronephrosis and kidney impairment. In addition, the diverse clinical picture of Erdheim-Chester disease arises slowly with sequential manifestations. We present a rare case of a 75-year-old woman on long-term treatment for panhypopituitarism and steroid therapy for vasculitis, presenting to the emergency department with bilateral renal colic and acute kidney injury. Abdominopelvic CT scan revealed renal infiltration with signs of retroperitoneal fibrosis and hydronephrosis. Kidney CT-guided biopsy and 18-fluorodeoxyglucose (FDG) positron emission tomography whole body scan as well as the history of hypopituitarism and vasculitis confirmed the diagnosis of Erdheim-Chester disease. Proper therapy with interferon-α was started. This case describes the multifaced manifestation of this disease and the difficulty to establish the diagnosis, as well as the pivotal role that a urologist can play in its management.


2020 ◽  
Vol 83 (6) ◽  
pp. AB30
Author(s):  
Rita Pimenta ◽  
Manuel Gomes ◽  
Luis Soares-Almeida ◽  
Andre Oliveira ◽  
Paulo Leal-Filipe

2014 ◽  
Vol 60 (6) ◽  
pp. 316-320 ◽  
Author(s):  
A. Perez ◽  
M. Crahes ◽  
A. Laquerrière ◽  
F. Proust ◽  
S. Derrey

2003 ◽  
Vol 169 (4) ◽  
pp. 1470-1471 ◽  
Author(s):  
EDWARD J. YUN ◽  
BENJAMIN M. YEH ◽  
ANNOEL P. YABES ◽  
FERGUS V. COAKLEY ◽  
CHRISTOPHER J. KANE

2020 ◽  
Vol 1 (1) ◽  
pp. 01-03
Author(s):  
Luís Teles

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell, lipid-laden histiocytosis with specific histological and radiological findings. The diagnosis sometimes is established lately in the course of the disease. We present a case of a 64-year-old female with elevated inflammatory markers for one year and symptoms related with her comorbidities, particularly bone pain and short of breath. Past medical history includes a stage III chronic kidney disease, central diabetes diagnosed when she was 38 years old, Paget Disease, metabolic syndrome and ischemic cardiopathy. Computed tomography in the near past showed a tissue densification in the thoracic vertebral column and kidneys with hairy aspect. X-ray of the arms, legs, skullcap, and demonstrated sclerotic changes. F-fluorodeoxyglucose positron emission tomography showed uptake in the skull, mediastinum, abdomen and long bones from arms and legs. Biopsy of the hairy kidney was consent after 4 years of an unknown disease in progression. Histological findings of the biopsy reported a diffuse infiltration by foamy histiocytes. On immunohistochemical staining, the histiocytes were positive for CD68 and negative for CD1 and S100. Mutation of BRAF V600E was present and ECD was established. Tocilizumab was initiated off label due to psychiatric contra indication for interferon use and no clinical conditions for BRAF inhibitors and symptoms started being controlled. The diagnosis of ECD is usually challenging due to the rarity of the disease and clinical overlapping with many other conditions. The rarity and variable presentation of this disease usually leads to delayed diagnosis and to high morbidity and mortality rates from associated complications.


1986 ◽  
Vol 80 (6) ◽  
pp. 1230-1236 ◽  
Author(s):  
Robin L. Miller ◽  
Leslie R. Sheeler ◽  
Thomas W. Bauer ◽  
Ronald M. Bukowski

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Eleonora Lauricella ◽  
Antonio d’Amati ◽  
Giuseppe Ingravallo ◽  
Maurizio Foresio ◽  
Domenico Ribatti ◽  
...  

Abstract Background Erdheim-Chester disease (ECD), a rare disorder of monocyte/macrophage lineage, has been related to cerebellar dysfunction. To increase the awareness of this rare, protean disease, an unusual, myasthenia-like onset of ECD is reported. Case presentation A 42-year-old man presented with a 6-year history of mild evening fatigability in his four limbs followed by motor and cognitive symptoms associated with cerebellar atrophy, dentate nuclei and dentato-thalamic pathway degeneration. Magnetic resonance imaging revealed hyperintense signals in T2 and fluid-attenuated inversion recovery sequences within the pons, cerebellar white matter, dentate nuclei and globi pallidi in the absence of any contrast enhancement. Whole-body bone scintigraphy with 99Technetium - methylene diphosphonate and fluorodeoxyglucose-positron emission tomography both revealed symmetric uptake in the lower extremities a finding suggestive of a diagnosis of ECD. Histological examination revealed diffuse infiltration of CD 68+ histiocytes with foamy cytoplasms in the presence of B-type of Rapidly Accelerated Fibrosarcoma protein kinase (BRAF)V600E activating mutation in tumor cells. Conclusion In patients with myasthenia-like symptoms who test negatively for myasthenia gravis, neurodegenerative diseases, and disorders of the hypothalamus, a diagnosis of ECD should be taken into consideration.


Sign in / Sign up

Export Citation Format

Share Document