Late-onset familial Mediterranean fever: A case series of missed diagnoses in pleural effusions
Year: 2026
Type: article
Study design: Case Report
Abstract: Familial Mediterranean fever (FMF) is an autoinflammatory disorder with typical early onset and recurrent episodes of fever and serositis. Late-onset FMF, especially presenting as isolated pleural effusion, is rare and often misdiagnosed. We present a case series of six patients over the age of 50 who were diagnosed with FMF after presenting with unexplained pleural effusions. Conventional evaluations failed to identify alternative etiologies, and empirical therapies showed limited success. In all cases, MEFV (Mediterranean fever) gene analysis revealed R202Q mutations, which guided the initiation of colchicine therapy with favorable outcomes. This study highlights the diagnostic challenges posed by atypical FMF presentations and underscores the importance of considering FMF in recurrent serositis, even without systemic inflammation. Early genetic testing and appropriate treatment may reduce unnecessary interventions and improve patient outcomes.
Source: Sage Open Chronic Disease
Institution: University of Thessaly
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7127885889