Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age

Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. In this case report, the youngest patient with the diagnosis of FMF is presented. She was consulted to pediatric rheumatology for the high acute phase response and fever. It was learned that her mother had recurrent swelling of her ankle joints. Mutation analysis was performed and two homozygous mutations (M694V and R202Q) were identified. She was diagnosed as FMF at 3 months of age and colchicine was started. She responded to colchicine. Her uncontrolled acute phase response declined gradually. This case was reported to point out the importance of early remembrance of autoinflammatory diseases even at very early ages especially at endemic countries. 1. Introduction Familial Mediterranean Fever (FMF) is an autosomal recessively inherited autoinflammatory disorder characterized by recurrent attacks of fever and inflammation of serosal membranes and it is mainly affecting Jews, Armenians, Turks, Arabs, and ethnic groups living around the Mediterranean basin [1]. Febrile episodes which are accompanied by peritonitis, pleuritis, synovitis, splenomegaly, hepatomegaly, myalgia, erysipelas-like erythema, protracted febrile myalgia, and seizures are clinical features of FMF [2]. Onset of the symptoms of the disease begins usually before 20 years of age [3]. The diagnosis is based on clinical features because there are no disease specific laboratory findings. Mutation analysis helps and supports diagnostic evaluation. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. Before this age, FMF awareness is unsatisfactory and there are only few publications about cases diagnosed before 2 years of age. 2. Case A 3-month-old girl was brought to the pediatric rheumatology unit for the complaints of recurrent fever and episodes of vomiting. From her history, it was learned that she was admitted to the hospital at the 6th day of life with symptoms of vomiting and restlessness. At that time, her CRP level was high and she had leukocytosis. Sepsis work-up and lumbar puncture were performed after maternal cultures were taken. With the diagnosis of sepsis, antibiotic therapy (ampicillin-sulbactam and netilmicin) was commenced. Hemoculture and CSF cultures were negative. Her CRP levels went on rising but she was clinically silent. At the