想起困難な希少疾患─家族性地中海熱─腸炎で発症し，経過中，周期熱・全身関節炎を併発し，家族性地中海熱と診断した1例

The Rare Disease for which Remembrance is Difficult: Familial Mediterranean Fever which Appeared by Enteritis, Report of a Case

要旨●患者は20歳代，男性．3年前より4〜5行/dayの水様下痢が出現した．翌年，血便を伴い，下痢回数が8〜10行/dayとなったため，大腸内視鏡検査を施行した．盲腸からS状結腸中部にかけてびまん性に発赤調で浮腫を伴う顆粒状粘膜を認め，潰瘍性大腸炎に類似した所見であった．メサラジンを投与したが，膵炎発症のため中止した．以後，腸炎に対しては経過観察とした．下痢は遷延し，1年半前より2週間〜3か月に1回の間隔で39℃台の発熱と全身関節の腫脹・疼痛が出現するようになった．発熱や関節痛は1〜3日で自然寛解しており，臨床経過と除外診断により家族性地中海熱と診断し，コルヒチンの投与を行った．治療開始後から発熱は消失し，下痢も改善傾向を示した．腹膜炎ではなく，腸管障害を来す家族性地中海熱はまれであり，報告した．

　A Japanese man in his 20s visited our department because of diarrhea and hematochezia. Colonoscopy revealed an inflamed granular mucosa with redness and edema in the large intestine from the cecum to the middle sigmoid colon, suggestive of ulcerative colitis. He was treated with mesalazine, and soon after, he developed pancreatitis. The treatment was changed to an antiflatulent, but it did not improve his diarrhea. After six months, he developed a fever of ≧39℃ and arthralgia. These symptoms appeared at intervals of about 2〜12 weeks and resolved spontaneously within a few days. Based on the clinical findings, we diagnosed him with familial mediterranean fever（FMF）. Treatment with colchicine was very effective, and most symptoms disappeared. Diarrhea is rare as the initial symptom of FMF.