Fujikawa Hirohisa, Ando Takayuki, Hirahashi Junichi
Center for General Medicine Education, School of Medicine, Keio University, Tokyo, JPN.
Cureus. 2024 Sep 10;16(9):e69117. doi: 10.7759/cureus.69117. eCollection 2024 Sep.
Familial Mediterranean fever (FMF) presents with various symptoms. Episodic abdominal pain is one of the most prevalent clinical characteristics of FMF and usually improves within 24-48 hours. We encountered a 50-year-old male patient from Japan who experienced recurrent episodes (several episodes occurring per year) of abdominal pain with fever since his late 20s. The abdominal pain and fever began almost simultaneously in each episode. The abdominal pain typically lasted for 1-2 weeks, while the fever subsided within two days. He remained as immobile as possible because walking worsened the pain. MEditerranean FeVer () gene analysis revealed exon 10 mutations (p.Met694Ile), resulting in an FMF diagnosis. Colchicine therapy effectively controlled the patient's FMF attacks. Although prolonged abdominal pain lasting over a week is an uncommon clinical characteristic of FMF, a proper diagnosis can improve the quality of life and prevent secondary amyloidosis. Therefore, clinicians should be aware of this rare clinical characteristic.
家族性地中海热(FMF)有多种症状。发作性腹痛是FMF最常见的临床特征之一,通常在24 - 48小时内缓解。我们遇到一名来自日本的50岁男性患者,自20多岁起就反复出现腹痛伴发热(每年发作数次)。每次发作时腹痛和发热几乎同时开始。腹痛通常持续1 - 2周,而发热在两天内消退。由于行走会加重疼痛,他尽可能保持不动。地中海热(MEFV)基因分析显示第10外显子突变(p.Met694Ile),从而确诊为FMF。秋水仙碱治疗有效控制了患者的FMF发作。虽然持续一周以上的长时间腹痛是FMF不常见的临床特征,但正确诊断可改善生活质量并预防继发性淀粉样变性。因此,临床医生应了解这一罕见的临床特征。