The spectrum of MEFV clinical presentations-is it familial Mediterranean fever only?
The spectrum of MEFV clinical presentations-is it familial Mediterranean fever only?
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DOI：
10.1093/rheumatology/kep296
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发表时间：
2009-11-01
期刊：
影响因子：
5.5
通讯作者：
Heyman, Samuel N.
中科院分区：
文献类型：
--
作者：
Ben-Chetrit, Eldad;Peleg, Hagit;Heyman, Samuel N.
Objective. FMF是一种常染色体隐性遗传病，与一个名为MEFV的单基因相关。该基因被认为只负责FMF。在本研究中，我们试图找出MEFV基因是否与FMF以外的临床状况相关或负责。我们寻找那些表现出FMF不典型的体征和症状但携带MEFV突变的患者。我们还检索了英文医学文献中关于类似情况的报道，并调查了网站“Infevers”中定义为与“非典型FMF”相关的MEFV突变。我们遇到了三名携带MEFV突变的患者，他们表现出不同的临床表现，而不是典型的FMF。我们确定了其他关于MEFV相关的非FMF疾病实体的报告，如回文风湿病。通过“Infevers”网站的筛选，我们进一步发现了13例MEFV突变，被定义为“非典型FMF”，4例被定义为“复发性关节炎”。这些发现表明MEFV基因与FMF以外的临床疾病相关。改变我们关于MEFV基因及其与这些临床表型的联系的概念可能需要对其他自身炎症性疾病的存在有更高的认识。此外，这些MEFV基因突变相关综合征的正确诊断将证明秋水仙碱的治疗试验是合理的，从而减轻了许多迄今为止被误诊的患者的痛苦。
Objective. FMF is an autosomal recessive hereditary disease, associated with a single gene named MEFV. This gene is considered to be responsible only for FMF. In the present study, we tried to find out whether the MEFV gene is associated with or responsible for clinical conditions other than FMF.Methods. We looked for patients who presented with signs and symptoms not typical for FMF but carried MEFV mutations. We also searched for reports about similar conditions in the English medical literature, and we surveyed the website 'Infevers' for MEFV mutations defined as associated with 'atypical FMF'.Results. We encountered three patients carrying MEFV mutations who presented with distinct clinical presentations not typical of FMF. We identified additional reports about MEFV-related non-FMF disease entities such as palindromic rheumatism. By screening the 'Infevers' website, we further disclosed 13 cases with MEFV mutations that were defined as 'atypical FMF and 4 cases categorized as 'recurrent arthritis'.Conclusions. These findings suggest that the MEFV gene is associated with clinical conditions other than FMF. Changing our concept regarding the MEFV gene and its link to such clinical phenotypes may call for a higher awareness of the existence of additional auto-inflammatory diseases. Furthermore, a correct diagnosis of these MEFV gene mutation-associated syndromes will justify a therapeutic trial with colchicine, thereby relieving suffering of many patients who up to now have been misdiagnosed.