Ulusal Romatoloji Dergisi, vol.15, no.3, pp.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.