Department of Infectious Diseases, Kobe University Hospital, Kobe, Japan.
Int J Gen Med. 2012;5:265-8. doi: 10.2147/IJGM.S30867. Epub 2012 Mar 22.
A 38-year-old woman presented with 2 days history of left-flank pain. She had similar episodes of abdominal pain as well as chest pain several times, but symptoms disappeared spontaneously. Each time she developed pain, there was no fever. After ruling out common causes of recurrent abdominal pain, familial Mediterranean fever (FMF) was considered as a potential diagnosis. Genetic tests revealed multiple heterozygote mutations, which may be associated with FMF. Patients with Mediterranean fever mutations may present with atypical presentations without fever, like in this case. Astute clinical suspicion is required to make an accurate diagnosis.
一位 38 岁女性因左腰部疼痛就诊,病史为 2 天。她曾多次出现类似的腹痛和胸痛症状,但症状会自行消失。每次出现疼痛时,她均无发热。在排除常见的复发性腹痛原因后,考虑家族性地中海热(FMF)为潜在诊断。基因检测显示存在多个杂合突变,可能与 FMF 相关。有地中海热突变的患者可能会出现无发热的不典型表现,如本病例。需要敏锐的临床怀疑来做出准确的诊断。