亀崎, 秀宏

黒杉, 茜

妹尾, 純一

坂本, 大

KAMEZAKI, Hidehiro

KUROSUGI, Akane

SENOO, Junichi

SAKAMOTO, Dai

[SUMMARY] Abdominal pain and fever are regularly encountered in clinical settings. Differential diagnoses based on such indicators often vary significantly; and without organic symptoms, it is difficult to establish a definitive diagnosis. Here, we report a case of recurrent abdominal pain and fever diagnosed by identification of a familial Mediterranean fever gene（MEFV）mutation. A 28-year-old male patient had visited multiple medical facilities for intermittent abdominal pain and fever spanning a 2-year period. His mother also reported a similar history. Imaging tests showed no abnormalities, however blood tests revealed elevated C-reactive protein levels. A diagnosis of enteritis was made, and the patient was closely monitored. He was referred to our hospital for a detailed examination. Generally, fevers may be caused by factors such as infections, collagen diseases, and malignant tumors ; but those conditions were denied by the patient. The patient complained of recurrent bouts of abdominal pain, and members of his family had similar histories. Therefore, we suspected familial Mediterranean fever. Further analysis of his blood work revealed that his C-reactive protein and serum amyloid A levels （664μg/mg （＜8.0μg/mL））were only elevated during attacks. Based on those findings, we clinically diagnosed the patient with familial Mediterranean fever. After administration of oral colchicine, the patient’s symptoms resolved. A definitive diagnosis was made after genetic analysis that revealed a heterozygous M694I mutation in exon 10 of the MEFV gene. Although familial Mediterranean fever was previously considered relatively rare in Japan, there may be a sizable number of undiagnosed patients. Thus, dissemination of knowledge on this disease is recommended.

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