Abstract

HISTORY AND ADMISSION FINDINGS:

A 33-year-old man of Turkish descent had suffered from recurrent diffuse abdominal pain and shoulder pain since 13 years. Repeatedly performed investigations in the past had produced numerous diagnoses. The symptoms had been recurring quarterly to weekly, lasted three days on average and resolved spontaneously. He never had fever and the family history was unremarkable. DIAGNOSIS, TREATMENT, AND

COURSE:

Blood tests demonstrated increased parameters for systemic inflammation and mild normochromic normocytic anemia. In addition to splemomegaly the abdominal computed tomography revealed signs of sacroiliitis. There was no arthritis of the shoulder radiologically. Despite lack of familial history and fever genetic analysis of the Mediterranean fever gene (MEFV) revealed two heterozygous mutations in this MEFV gene for M694 and V726A. The patient was treated with colchicine and has now remained free of symptoms for meanwhile 10 months. There had been no comparable symptom-free period during the last 10 years.

CONCLUSION:

Sometimes the name "Familial Mediterranean Fever" (FMF) is misleading because this disease may, although rarely, occur without both, fever and familial history. Because of the increasing number of immigrants FMF should be considered in the initial differential diagnosis of patients of Mediterranean origin presenting with abdominal pain. Genetic analysis of the MEFV-gene as well as a therapeutic trial with colchicine, may help to detect FMF.