The 2017 International Classification of the Ehlers-Danlos Syndromes
The 2017 International Classification of the Ehlers-Danlos Syndromes
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DOI：
10.1002/ajmg.c.31552
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发表时间：
2017-03-01
影响因子：
3.1
通讯作者：
Tinkle, Brad
中科院分区：
文献类型：
--
作者：
Malfait, Fransiska;Francomano, Clair;Tinkle, Brad
ehers - danlos综合征（EDS）是一种临床和遗传异质性的遗传性结缔组织疾病（HCTDs），其特征是关节过度活动、皮肤过度伸展和组织脆弱。在过去的二十年中，维尔朗什疾病分类学（Villefranche Nosology）已被广泛用作EDS的临床诊断标准。对于这些亚型中的大多数，已经在胶原编码基因或编码胶原修饰酶的基因中发现了突变。自1998年发表以来，已经描述了一系列新的EDS亚型，并在一系列新的基因中发现了突变。国际EDS联盟提出了一个修订的EDS分类，其中承认13个亚型。对于每一种亚型，我们提出了一套临床诊断标准。然而，鉴于EDS亚型的巨大遗传异质性和表型变异性，以及EDS亚型之间以及与其他HCTDs之间的临床重叠，除了超移动型外，所有EDS亚型的明确诊断都依赖于分子确认(a)致病遗传变异(s)的鉴定。我们还修订了过度活动EDS的临床标准，以便与其他关节过度活动障碍更好地区分。为了满足研究需要，我们还提出了一种致病方案，即对致病蛋白在同一途径内起作用的EDS亚型进行重组。我们希望修订后的EDS国际分类将成为EDS诊断的新标准，并为今后的研究提供一个框架。(C) 2017 Wiley期刊公司
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes. (C) 2017 Wiley Periodicals, Inc.