Alkarrash Mohamad Shadi, Shashaa Mohammad Nour, Rhayim Roaa, Aljarad Ziad
Faculty of Medicine, University of Aleppo, Aleppo, Syria.
PhD Gastroenterology Department, Aleppo University Hospital, Aleppo, Syria.
Ann Med Surg (Lond). 2022 Jan 25;74:103295. doi: 10.1016/j.amsu.2022.103295. eCollection 2022 Feb.
Sphincter of Oddi dysfunction is a rare disease caused by sphincter of Oddi functional or mechanical abnormality. Misdiagnosis of familial Mediterranean fever is very high due to overlapping symptoms with many diseases. Our case is the first case report in the medical literature which describes the misdiagnosis of Sphincter of Oddi dysfunction as familial Mediterranean fever.
A 46-year-old woman presented with recurrent episodes of abdominal pain and arthralgia. The patient had familial Mediterranean fever for ten years which was diagnosed clinically without performing genetic tests. Analysis of the mutation in the MEFV gene was performed and was negative. Thereby, the diagnosis of familial Mediterranean fever was eliminated and colchisine was discontinued. Afterward, laboratory and radiological tests were performed, and the diagnosis of sphincter of Oddi disfunction was confirmed. The patient underwent biliary sphincterotomy and take sulpiride daily.
The most common diseases were misdiagnosed with familial Mediterranean fever are appendicitis, acute rheumatic fever, gastrointestinal diseases and inflammatory arthritis. Endoscopic retrograde cholangiopancreatography with Manometry of the Sphincter of Oddi is the gold-standard test.
Sphincter of Oddi dysfunction may interfere with many other disorders and should be considered as a differential diagnosis for any recurrent abdominal pain. Misdiagnosis of familial Mediterranean fever is common in endemic countries due to the reliance on clinical symptoms without analysis of the mutations in the MEFV genes particularly, before 1997.
奥狄括约肌功能障碍是一种由奥狄括约肌功能或机械性异常引起的罕见疾病。由于与许多疾病症状重叠，家族性地中海热的误诊率很高。我们的病例是医学文献中首例将奥狄括约肌功能障碍误诊为家族性地中海热的病例报告。
一名46岁女性反复出现腹痛和关节痛。该患者临床诊断为家族性地中海热已有十年，未进行基因检测。对MEFV基因的突变进行了分析，结果为阴性。因此，排除了家族性地中海热的诊断，停用了秋水仙碱。此后，进行了实验室和影像学检查，确诊为奥狄括约肌功能障碍。患者接受了胆管括约肌切开术，每天服用舒必利。
最常被误诊为家族性地中海热的疾病有阑尾炎、急性风湿热、胃肠道疾病和炎性关节炎。内镜逆行胰胆管造影术加奥狄括约肌测压是金标准检查。
奥狄括约肌功能障碍可能与许多其他疾病相互干扰，对于任何复发性腹痛都应考虑将其作为鉴别诊断。在流行国家，由于依赖临床症状而未对MEFV基因进行突变分析，尤其是在1997年之前，家族性地中海热的误诊很常见。
