FMF presented by aseptic abscesses

Abstract

A 23-year-old otherwise healthy female with family history of familial Mediterranean fever (FMF) in 2 siblings who are on colchicine presented with fever, pleuritis, pericarditis, peritonitis and multiple abscesses in the liver. Sampling from the liver abscess showed neutrophil predominance with no findings of granuloma, vasculitis, lymphoma or malignancy. Similarly, samples from peritoneum and pleural fluids are exudative and showed foamy histiocytes, polymorphonuclear leukocytes. No pathogens, including bacterial, viral and fungal agents, were grown in cultures. The inflamatuary markers were very high, and despite multiple antibiotherapy, the clinical status and biochemistry picture did not improve. After excluding malignancy and infection, the picture was evaluated as an autoinflammatory disease and steroid treatment was started as anti-inflammatory therapy. Anti-interleukin 1 was added to the treatment of the patient who showed a dramatic radiological and clinical response to the steroid, and the steroid dose was reduced. Genomic DNA sample isolated from peripheral blood test showed homozygous MEFV m694v gene mutation diagnosing