Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized by recurrent, self-limited episodes of fever with serositis; and is caused by Mediterranean fever gene (MEFV) mutations on chromosome 16. We describe a case of adult-onset FMF with complete symptomatic remission during pregnancy, without the use of colchicine. A 25-year-old woman had presented with periodic fever, abdominal pain, and vomiting since she was 21. Her abdominal computed tomography scan showed intestinal nonrotation. She underwent exploratory laparotomy and appendectomy for her symptoms 1 year prior. She had a symptom-free pregnancy period, but abdominal pain and fever recurred after delivery. Mutation analysis of the MEFV gene revealed two point mutations (p.Leu110Pro and p.Glu148Gln). We report an adult female patient with FMF in Korea with complete symptomatic remission during pregnancy.
Keywords: Familial Mediterranean fever; MEFV gene; Periodic fever syndrome; Pregnancy.