A case of adult onset Still's disease with mutations of the MEFV gene who is partially responsive to colchicine

Rationale: Familial Mediterranean fever (FMF) and adult onset Still's disease (AOSD) have overlapping features, and are categorized as being on the spectrum of autoinflammatory diseases (AIDs). FMF is more prevalent in the Mediterranean region but rarely, described in the Chinese population. Patient concerns: We present an interesting case of a Han Chinese AOSD patient with episodic fever, wheals, and polyarthritis for 2 years. Diagnosis: Sequencing analysis found exon 2 mutations of the MEFV gene (c.329T>C [L110P], and c.442G>C [E148Q]). Intervention: Her arthritis was well-controlled with colchicine treatment, but fever, and rashes were not. Outcomes: She eventually received tocilizumab, in addition to colchicine, and her symptoms completely disappeared. Lessons: MEFV mutations may exist in AOSD patients, and treatment with colchicine might be helpful in such patients.