Unprecedented coexistence of autoinflammatory myositis and chronic thrombosis with heterozygotic M694V mutation: An atypical presentation of familial Mediterranean fever.

This article, published in Modern Rheumatology Case Reports, discusses a rare case of familial Mediterranean fever (FMF) with atypical symptoms. The patient, a 41-year-old male, presented with severe leg pain, stiffness, and localized swellings without fever or abdominal symptoms. Further examination revealed muscle inflammation in both legs and chronic thrombosis in the inferior vena cava. Genetic testing confirmed the presence of the heterozygotic M694V mutation, diagnosing an atypical FMF. This case highlights the potential for FMF to present with complex manifestations beyond the conventional symptoms and underscores the need for further research to enhance understanding of FMF's diverse clinical spectrum. [Extracted from the article]