A case of Behçet's-like disease associated with trisomy 8-positive myelodysplastic syndrome presented periodic fever with MEFV E148Q variant.

Behçet's-like disease, which incompletely fulfils the criteria of Behçet's disease, is often associated with trisomy 8-positive myelodysplastic syndrome (MDS). We report a case of an 82-year-old man with these conditions carrying E148Q variant of MEFV gene who presented with periodic fever. The patient presented with joint pain, muscle pain, and episodes of periodic fever every two weeks for the past three months. On admission, painful erythema and fever were observed. Colonoscopy revealed erosion in the cecum and ascending colon. The patient had bicytopenia, and a bone marrow biopsy showed findings compatible with trisomy 8-positive unclassifiable MDS. Because the patient incompletely fulfilled the criteria for Behçet's disease, he was diagnosed with Behçet's-like disease associated with trisomy 8-positive MDS. Positron emission tomography-computed tomography performed during the fever revealed multiple muscle lesions consistent with the sites of pain. To examine the cause of the periodic fever attacks, MEFV gene was analysed, and the results revealed E148Q variant. Steroids were ineffective against periodic fever attacks. A daily dose of 0.5 mg colchicine was prescribed, but the effect was minimal, probably because of the insufficient dose due to renal dysfunction. Based on the diagnosis of atypical familial Mediterranean fever, canakinumab was added, which partially mitigated the periodic fever. This case suggests the importance of ruling out MDS when physicians see an elderly patient who present with Behçet-like disease. Although the significance of E148Q variant in the pathogenesis of periodic fever remains controversial, it may act as a disease modifier in accordance with trisomy 8-positive MDS.