Differential Diagnosis and Diagnostic Flow Chart of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type Compared to Other Heritable Connective Tissue Disorders
Differential Diagnosis and Diagnostic Flow Chart of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type Compared to Other Heritable Connective Tissue Disorders
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DOI：
10.1002/ajmg.c.31429
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发表时间：
2015-03-01
影响因子：
3.1
通讯作者：
Ritelli, Marco
中科院分区：
文献类型：
--
作者：
Colombi, Marina;Dordoni, Chiara;Ritelli, Marco
关节过度活动综合征/Ehlers-Danlos综合征过度活动型（JHS/EDS-HT）是一种演变和多变的疾病，主要由全身性关节过度活动识别，没有明确的分子基础。JHS/EDS-HT还表现出其他结缔组织特征，影响各种结构和器官，如皮肤、眼睛、骨骼和内脏。然而，大多数这些体征在许多其他遗传性结缔组织疾病中以不同的组合和严重程度存在。因此，JHS/EDS-HT是一种排除诊断，需要缺乏任何一致的特征，指示其他部分重叠的结缔组织疾病。虽然Villefranche和Brighton标准都将这种排除作为强制性项目，但仍然缺乏达到JHS/EDS-HT严格临床诊断的系统方法。缺乏共识的诊断方法JHS/EDS-HT有关其临床边界与类似的条件有助于限制我们的实际了解这种疾病的病理和分子基础。在这篇综述中，我们修订了JHS/EDS-HT与那些与前者有显著重叠的遗传性结缔组织疾病的鉴别诊断，这些疾病主要包括EDS经典型、血管型和脊柱后凸型、成骨不全、Marfan综合征、Loeys-Dietz综合征、动脉迂曲综合征和外侧脑膜膨出综合征。一个诊断流程图也提供了与尝试，以支持经验不足的临床医生在严格承认JHS/EDS-HT和刺激在科学界的管理和研究目的的辩论。(c)2015年威利期刊公司
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an exclusion diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes. (c) 2015 Wiley Periodicals, Inc.