Diagnostic Challenges: A Case Series of Sarcoidosis

Introduction Sarcoidosis is a multisystem granulomatous disease of unknown etiology characterized histologically by non-caseating granulomas. Diagnosis is often by exclusion, requiring the elimination of infectious and foreign-body triggers. While bilateral hilar lymphadenopathy and elevated serum Angiotensin-Converting Enzyme (ACE) levels are suggestive, their diagnostic sensitivity and specificity are limited. Furthermore, clinical management is often guided by anecdotal evidence due to lack of randomized controlled trials, particularly in cases involving extra-pulmonary organs. Case Presentation In this case series, we describe three distinct and diagnostically challenging presentations of sarcoidosis involving critical organ systems: 1. Renal involvement : Highlights the diagnostic pathway in a patient presenting with unexplained renal insufficiency. 2. Cardiac involvement: Details the complexities of identifying sarcoidosis as the underlying cause of conduction abnormalities and arrhythmia. 3. Central nervous system (CNS) involvement: Illustrates the “masquerader” nature of neurosarcoidosis and the challenges of obtaining tissue confirmation at neurological sites. Each case highlights the diagnostic hurdles faced when classic pulmonary findings are absent or subtle, and the reliance on a high index of clinical suspicion alongside multimodal imaging. Conclusion These cases underscore the extreme clinical heterogeneity of sarcoidosis. Involvement of the renal, cardiac, and central nervous systems poses a significant diagnostic challenge, as delays in treatment can lead to significant morbidity. This series emphasizes the need for a standardized diagnostic approach and contributes to the growing body of anecdotal evidence that currently guides the management of rare extra-pulmonary manifestations of this “great masquerader.”

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Publication Details

Journal
The Open Rheumatology Journal
Published
2026-11-04
DOI
https://doi.org/10.2174/0118743129508497261022114528
Primary Topic
Sarcoidosis and Beryllium Toxicity Research
Type
article
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article

Diagnostic Challenges: A Case Series of Sarcoidosis

Ishwarya Ramadoss, Arul Rajamurugan Ponniah Subramanian, Dhiliprajan Kannan
The Open Rheumatology Journal
Sarcoidosis and Beryllium Toxicity Research
article

Diagnostic Challenges: A Case Series of Sarcoidosis

Ishwarya Ramadoss, Arul Rajamurugan Ponniah Subramanian, Dhiliprajan Kannan
article en

Abstract

Introduction Sarcoidosis is a multisystem granulomatous disease of unknown etiology characterized histologically by non-caseating granulomas. Diagnosis is often by exclusion, requiring the elimination of infectious and foreign-body triggers. While bilateral hilar lymphadenopathy and elevated serum Angiotensin-Converting Enzyme (ACE) levels are suggestive, their diagnostic sensitivity and specificity are limited. Furthermore, clinical management is often guided by anecdotal evidence due to lack of randomized controlled trials, particularly in cases involving extra-pulmonary organs. Case Presentation In this case series, we describe three distinct and diagnostically challenging presentations of sarcoidosis involving critical organ systems: 1. Renal involvement : Highlights the diagnostic pathway in a patient presenting with unexplained renal insufficiency. 2. Cardiac involvement: Details the complexities of identifying sarcoidosis as the underlying cause of conduction abnormalities and arrhythmia. 3. Central nervous system (CNS) involvement: Illustrates the “masquerader” nature of neurosarcoidosis and the challenges of obtaining tissue confirmation at neurological sites. Each case highlights the diagnostic hurdles faced when classic pulmonary findings are absent or subtle, and the reliance on a high index of clinical suspicion alongside multimodal imaging. Conclusion These cases underscore the extreme clinical heterogeneity of sarcoidosis. Involvement of the renal, cardiac, and central nervous systems poses a significant diagnostic challenge, as delays in treatment can lead to significant morbidity. This series emphasizes the need for a standardized diagnostic approach and contributes to the growing body of anecdotal evidence that currently guides the management of rare extra-pulmonary manifestations of this “great masquerader.”

The Open Rheumatology JournalVol. 20(1)
Madras Medical College (IN), Government General Hospital (IN)
Openalex Percentile: Top 14%
Sarcoidosis and Beryllium Toxicity Research
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