Knee-Deep in Bias: When the Low-Probability Diagnosis of Double-Expressor Lymphoma Wins

TL;DR

A rare lymphoma diagnosis was delayed in a remote region due to limited resources, leading to severe complications.

Contribution

Highlights the challenges of diagnosing rare diseases in geographically isolated and resource-limited areas.

Findings

Initial knee pain was misdiagnosed as gout, delaying detection of lymphoma.

Diagnostic limitations in CNMI led to months of progression before accurate diagnosis.

The case emphasizes the need for improved diagnostic strategies in remote regions.

Abstract

In resource-constrained, geographically isolated regions like the Commonwealth of the Northern Mariana Islands (CNMI), diagnostic delays can have profound consequences, particularly for aggressive lymphomas. This case report details the journey of a 32-year-old female originally from Tinian, whose initial presentation of knee pain was attributed to gout, masking an underlying double expressor subtype of diffuse large B-cell lymphoma. The limitations in CNMI, including the absence of MRI, prolonged referral pathways, a lack of specialists, and logistical hurdles in obtaining specialized molecular diagnostics, significantly delayed accurate diagnosis. Over months, her condition progressed to include lytic bone lesions, soft tissue masses, and ultimately, widespread systemic involvement requiring definitive management at a higher-level facility. The case underscores how resource disparities in remote settings can obscure rare diagnoses, emphasizing the need for heightened clinical suspicion, innovative diagnostic strategies, streamlined referral processes, and/or expansion of virtual healthcare to improve outcomes in such vulnerable populations.

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