The evaluation of gene polymorphisms associated with autoinflammatory syndrome in patients with palindromic rheumatism complicated by intermittent hydrarthrosis.

OBJECTIVES: Palindromic rheumatism (PR) is a type of acute arthritis or periarthritis characterized by recurrence, paroxysmal, or intermittent disease attacks and occasionally progresses to other types of rheumatic disease. PR patients who are anti-citrullinated protein antibodies (ACPA)-negative have a high prevalence of MEFV gene polymorphisms, and intermittent hydrarthrosis (IH) is also associated with MEFV polymorphisms. The purpose of this study was to evaluate the clinical characteristics of and autoinflammatory syndrome-associated gene polymorphisms in patients with PR and IH and to identify predictive factors for developing other rheumatic diseases.

METHODS: Six PR patients (four females; median age at disease onset, 20.0 years; median age at evaluation, 47.0 years) were retrospectively evaluated for clinical features and polymorphisms in genes responsible for autoinflammatory diseases.

RESULTS: All six patients fulfilled the diagnostic criteria for PR and showed clinical feature of IH. Two presented with recurrent fever. All six patients were negative for rheumatoid factor and ACPA and had normal articular X-ray findings. Among the six patients, MEFV gene polymorphisms known to cause FMF were identified in four, CIAS1 mutation was observed in one, and TNFRSFIA mutation was observed in one. Colchicine was effective in three patients with MEFV polymorphisms. The other five patients continued to experience PR, although three patients achieved remission with medication.

CONCLUSIONS: PR presenting with IH might be associated with gene polymorphisms responsible for autoinflammatory diseases; colchicine appears to be effective in these patients.Key Point• Palindromic rheumatism with intermittent hydrarthrosis might be associated with gene polymorphisms responsible for autoinflammatory diseases.