Familial Mediterranean fever

HISTORY AND ADMISSION FINDINGS: A 33-year-oldman of Turkish descent had suffered from recurrent diffuse abdominalpain and shoulder pain since 13 years. Repeatedly performed investigationsin the past had produced numerous diagnoses. The symptoms had beenrecurring quarterly to weekly, lasted three days on average andresolved spontaneously. He never had fever and the family historywas unremarkable. DIAGNOSIS, TREATMENT, AND COURSE: Bloodtests demonstrated increased parameters for systemic inflammationand mild normochromic normocytic anemia. In addition to splemomegaly theabdominal computed tomography revealed signs of sacroiliitis. Therewas no arthritis of the shoulder radiologically. Despite lack offamilial history and fever genetic analysis of the Mediterraneanfever gene (MEFV) revealed two heterozygous mutations in this MEFVgene for M694 and V726A. The patient was treated with colchicineand has now remained free of symptoms for meanwhile 10 months. Therehad been no comparable symptom-free period during the last 10 years. CONCLUSION: Sometimes the name "FamilialMediterranean Fever” (FMF) is misleading because this diseasemay, although rarely, occur without both, fever and familial history.Because of the increasing number of immigrants FMF should be considered inthe initial differential diagnosis of patients of Mediterranean originpresenting with abdominal pain. Genetic analysis of the MEFV-geneas well as a therapeutic trial with colchicine, may help to detectFMF.