Early diagnosis of familial Mediterranean fever (FMF) is crucial for preventing both recurrent attacks of polyserositis and complications in the course of the disease such as amyloidosis. Pre-diagnostical knowledge about the disease may assist early diagnosis. In this study, we evaluated the importance of pre-diagnostical knowledge about FMF for early diagnosis. We enrolled 138 FMF patients to the study. Then, the patients were dichotomized according to the patients’ FMF knowledge before diagnosis. We found that 40 (28.9%) of the patients were informed of the disease before diagnosis. Thirty-six of those patients got the data from their family members with FMF. Both demographic and disease-related features were similar between the groups. Furthermore, pre-diagnostic knowledge about FMF did not assist for early diagnosis of FMF. Interestingly, only half of the patients with history of FMF in family members were informed of the disease before diagnosis. Therefore, genetic consultation and patient education with questioning the patients for family history during medical evaluation may help early diagnosis in FMF.

中文翻译：

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在单中心土耳其家族性地中海热人群中，预诊断知识并未提供早期诊断

家族性地中海热（FMF）的早期诊断对于预防多发性浆膜炎的反复发作和在疾病过程中（如淀粉样变性病）并发症均至关重要。有关疾病的预诊断知识可能有助于早期诊断。在这项研究中，我们评估了有关FMF的预诊断知识对早期诊断的重要性。我们招募了138名FMF患者。然后，根据患者的FMF知识将患者分为两部分，然后再进行诊断。我们发现40例（28.9％）患者在诊断之前已获知该病。这些患者中有36名从其家庭成员的FMF中获得了数据。两组之间的人口统计学特征和与疾病相关的特征相似。此外，有关FMF的预诊断知识对FMF的早期诊断没有帮助。有趣的是 在诊断之前，只有一半家庭成员患有FMF病史的患者已被告知该疾病。因此，在医学评估期间进行遗传咨询和患者教育以询问患者的家族史可能有助于FMF的早期诊断。