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Diagnosing a Patient with Erdheim-Chester Disease during the COVID-19 Pandemic
Georgia Kaiafa1, Dimitrios Pilalas1, Triantafyllia Koletsa2
1First Propedeutic Department of Internal Medicine, AHEPA University Hospital, Medical School, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Insights
Erdheim-Chester disease (ECD), a rare cancer, poses diagnostic challenges. The COVID-19 pandemic complicated diagnosis and care for this rare condition, highlighting healthcare system vulnerabilities.
Area of Science:
- Oncology
- Rare Diseases
- Hematology
Background:
- Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm with an insidious onset.
- The COVID-19 pandemic significantly disrupted healthcare services globally.
- Rare disease diagnosis and management face unique challenges during pandemics.
Observation:
- A 58-year-old male presented with fever and anemia, later found to have perirenal masses.
- Diagnostic biopsies for suspected ECD were complicated by the COVID-19 pandemic.
- The patient contracted SARS-CoV-2, requiring hospitalization and recovery.
Findings:
- Despite diagnostic delays due to the pandemic, ECD was diagnosed.
- The patient deferred ECD treatment after recovery from COVID-19.
- No further organ involvement was noted at the time of presentation.
Implications:
- A high index of suspicion and multidisciplinary collaboration are crucial for diagnosing rare diseases like ECD.
- Healthcare system disruptions during pandemics disproportionately impact rare disease patients.
- Further research is needed to improve care for rare disease patients in pandemic settings.
Abstract:
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.
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