Diagnostic Challenges: A Case Series of Sarcoidosis

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.

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.

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.”