家族性地中海热合并假脓毒性关节炎1例报告及文献复习。

Laith Alamlih, Layth Al-Karaja, Mohammad Alayaseh, Fawzy Abunejma, Ziyad Al-Zeer, Bashar Sultan
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摘要

家族性地中海热(FMF)是一种由MEFV基因突变引起的遗传性自身炎症性疾病。这种疾病的特点是反复发作的腹痛和发烧。大多数FMF患者在其生命中的某些时候发展为关节炎,通常表现为自限性单关节炎。在非常罕见的情况下,FMF中的关节炎可以模仿脓毒性关节炎(假性脓毒性关节炎),其临床和实验室结果非常相似。我们报告一例年轻的男性患者谁提出了长期单关节炎的反复发作。2年来,他曾多次入院并因疑似脓毒性关节引流手术。滑膜抽吸显示培养阴性脓液和非常高的滑膜白细胞计数高度提示脓毒性关节炎。根据MEFV基因的纯合M694V突变,该患者后来被发现患有FMF。他接受秋水仙碱单药治疗,关节炎迅速好转,后来病情得到良好控制。文献回顾显示很少有类似的病例报告,大多数对秋水仙碱反应良好。FMF可以模拟脓毒性关节炎,导致不必要的昂贵和侵入性干预和延长抗生素疗程。假性脓毒性关节炎通常与M694V纯合突变相关,并可在整个病程中的任何时间使FMF复杂化。在脓毒性关节炎的鉴别诊断中考虑FMF是很重要的,特别是对于有FMF家族史的患者和来自MEFV基因突变高发社区的患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Familial Mediterranean fever with pseudo-septic arthritis: A case report and review of the literature.
INTRODUCTION Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease resulting from mutations of the MEFV gene. The disease is characterized by recurrent attacks of abdominal pain and fever. Most FMF patients develop arthritis at some point in their life usually manifesting as self-limiting mono-arthritis. On very rare occasions, arthritis in FMF can mimic septic arthritis (pseudo-septic arthritis) with very similar clinical and laboratory findings. CASE PRESENTATION We report a case of a young male patient who presented with recurrent attacks of prolonged mono-arthritis. For two years, he had undergone multiple admissions and operations for drainage of suspected septic joints. The synovial aspiration showed culture negative pus with very high synovial white blood cell counts highly suggestive of septic arthritis. The patient was later found to have FMF based on homozygous M694V mutation of the MEFV gene. He was treated with colchicine monotherapy with a quick improvement of the arthritis and later good control of his disease. Literature review showed very few case reports with similar presentation most of which responded well to colchicine. CONCLUSIONS FMF can mimic septic arthritis resulting in unnecessary expensive and invasive interventions and prolonged courses of antibiotics. Pseudo-septic arthritis is usually associated with M694V homozygous mutation and can complicate FMF at any time throughout the disease course. It is important to consider FMF in the differential diagnosis of septic arthritis particularly with a family history of FMF and in patients from communities with high prevalence of MEFV gene mutation.
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