Kyejo Willbroad, Machibya Musa, Hooda Faisal, Gahhu Waziri, Mandania Shivangi, Ismail Neelam, Matillya Nancy, Mjema Kilalo, Hameed Kamran
Department of Family Medicine, Aga Khan University, Dar es Salaam, Tanzania.
Department of Accident and Emergency, Aga Khan Hospital, Dar es Salaam, Tanzania.
SAGE Open Med Case Rep. 2023 Aug 26;11:2050313X231195964. doi: 10.1177/2050313X231195964. eCollection 2023.
Familial Mediterranean fever is a rare autosomal recessive autoinflammatory disorder prevalent in Middle Eastern populations, characterized by episodic abdominal pain. This case report presents a 34-year-old Egyptian man with severe lower abdominal pain, chest discomfort, and joint pain, along with a positive family history of familial Mediterranean fever but had no previous personal history of this condition. Blood work revealed leukocytosis with neutrophilia and elevated C-reactive protein and erythrocyte sedimentation rate. The patient received intravenous fluids, antiemetics, and analgesics before further evaluation. Diagnosis of familial Mediterranean fever relies on clinical symptoms, ethnic origin, and family history, supported by specific criteria. Typical familial Mediterranean fever attacks involve serositis-induced pain, recurrent episodes, short-duration fever (12 h to 3 days), and arthritis. Familial Mediterranean fever may mimic other acute abdominal conditions, warranting consideration, particularly in individuals from Mediterranean regions. Genetic testing is valuable in confirming familial Mediterranean fever diagnosis.
家族性地中海热是一种罕见的常染色体隐性自身炎症性疾病，在中东人群中普遍存在，其特征为发作性腹痛。本病例报告介绍了一名34岁的埃及男子，他患有严重的下腹痛、胸部不适和关节疼痛，有家族性地中海热的家族史，但此前无该病的个人病史。血液检查显示白细胞增多伴中性粒细胞增多，C反应蛋白和红细胞沉降率升高。在进一步评估之前，患者接受了静脉输液、止吐药和镇痛药治疗。家族性地中海热的诊断依赖于临床症状、种族起源和家族史，并由特定标准支持。典型的家族性地中海热发作包括浆膜炎引起的疼痛、反复发作、短期发热（12小时至3天）和关节炎。家族性地中海热可能会模仿其他急性腹部疾病，需要考虑，特别是在地中海地区的个体中。基因检测对于确诊家族性地中海热很有价值。
