Article in Japanese
A case of 14-year-old girl with atypical familial Mediterranean fever who improved by colchicine and low-dose oral contraceptive
Yasutaka OTA1), Hisano NAKATSUBO1), Kazuhiro WATANABE1), Kentaro SHINOZAKI1)
Familial Mediterranean fever (FMF) is regarded as a rare disease in Japan, and there have been sporadic reports in which familial Mediterranean fever gene (MEFV) mutations were identified in suspected cases of inflammatory bowel disease, rheumatic disease and endometriosis. A 14-year-old girl who had experienced several episodes of fever with severe abdominal pain during menstrual periods developed ileus and cystic lesion in the pelvis. Although these symptoms improved after 3-4 days without any specific medication, similar symptoms reoccurred during menstrual periods. Her illness was diagnosed as atypical FMF by a presence of heterozygous G304R mutation in exon 2 of MEFV gene. Colchicine alone did not show any effects. After combining monophasic low-dose oral contraceptive with colchicine, she had no recurrence of the symptoms. A combination of low-dose oral contraceptive with colchicine may be effective for a female FMF case with recurrent symptoms during menstrual period.
1) Department of Pediatrics, Kurobe city hospital
|familial Mediterranean fever, menstruation, colchicine, low-dose oral contraceptive
|December 5, 2019
|April 16, 2020