Department of Pediatrics, Hadassah Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.
Department of Pediatrics, Hadassah Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.
Autoimmun Rev. 2014 Apr-May;13(4-5):388-90. doi: 10.1016/j.autrev.2014.01.045. Epub 2014 Jan 11.
Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disease, mainly affecting ethnic groups living at Mediterranean basin. FMF is characterized by recurrent, self-limited episodes of fever and serositis. The diagnosis is difficult in the presence of atypical signs, which may result in significant delay in initiating treatment. As autoinflammatory diseases may have overlapping symptoms, strict diagnostic criteria are essential. Since the discovery that mutations in the gene MEFV underlie FMF, molecular genetic testing has been used as a diagnostic adjunct, especially in atypical cases. However, despite progress in the understanding of FMF disease mechanisms during the past 15 years; the diagnosis is still based on clinical criteria. Several sets of diagnostic criteria have been proposed and used. Existing diagnostic criteria should be modified to include genetic data, and need to be more widely validated.
家族性地中海热（FMF）是最常见的单基因自身炎症性疾病，主要影响生活在地中海盆地的种族群体。FMF 的特征是反复发作、自限性的发热和浆膜炎。在存在不典型体征的情况下，诊断较为困难，这可能导致治疗的显著延迟。由于自身炎症性疾病可能有重叠的症状，因此严格的诊断标准是必要的。自从发现 MEFV 基因突变为 FMF 的基础以来，分子遗传学检测已被用作辅助诊断，尤其是在不典型病例中。然而，尽管在过去 15 年中对 FMF 疾病机制的理解取得了进展，但诊断仍然基于临床标准。已经提出并使用了几套诊断标准。现有的诊断标准应该进行修改，纳入遗传数据，并需要更广泛的验证。
