FMF presented by aseptic abscesses

Ulusal Romatoloji Dergisi, cilt.15, sa.3, ss.167-170, 2023 (Scopus, TRDizin)

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 the

patient with FMF.