経過中に潰瘍性大腸炎とCrohn病の内視鏡的所見像を有し診断困難であった家族性地中海熱の1例

Familial Mediterranean Fever that was Difficult to Diagnose due to Endoscopic Findings of Ulcerative Colitis and Crohn's Disease during the Course, Report of a Case

要旨●患者は70歳代後半，女性．下痢と血便で発症し，大腸内視鏡所見では直腸〜S状結腸にかけて連続性に粘膜粗糙と浮腫を認め潰瘍性大腸炎（UC）を疑う粘膜炎症であったが，EGDで，胃体部大彎に竹の節状外観を認めCrohn病（CD）に典型的な粘膜所見であった．大腸病変からはUCを疑ったが，上部消化管病変の粘膜炎症と直腸のびらんに非乾酪性類上皮細胞肉芽腫が認められ，診断に難渋したが高齢発症のCDと診断し経過をみていた．経過中に出現した右股関節痛と微熱といった臨床症状と，粘膜炎症が軽症であるにもかかわらず，5-ASAや栄養療法，顆粒球吸着療法など既存治療の有効性が低いことから，家族性地中海熱（FMF）を疑い，コルヒチンの投与を行った．治療開始後から関節痛と微熱，下痢が改善傾向となり，CRPも陰性化した．その後，MEFV exon 2の変異を認め，FMFと診断した．CDからFMFと診断しえた症例を報告する．

　The patient was a woman in her 70s who developed diarrhea and bloody stools. A colonoscopy revealed continuous mild friability and edema from the rectum to the sigmoid colon, as well as mucosal inflammation consistent with UC（ulcerative colitis） ; however, an upper gastrointestinal endoscopy revealed bamboo in the gastric body and mucosal findings consistent with CD（Crohn's disease）. The colon lesion raised the possibility of UC. CD was diagnosed from the upper gastrointestinal lesions and granuloma, and the progression was tracked. Despite the presence of clinical symptoms such as right hip joint pain, low-grade fever during the study period, as well as mild mucosal inflammation ; existing treatments such as 5-ASA, nutritional therapy, and granulocyte adsorption therapy were barely effective. Therefore, FMF（familial Mediterranean fever）was suspected and colchicine was administered. After initiating treatment, joint pain, low-grade fever, and diarrhea improved, and CRP was also negative. FMF was later diagnosed after a mutation in MEFV exon 2 was discovered. Here, we present a case of FMF caused by CD.