Castori Marco, Morlino Silvia, Pascolini Giulia, Blundo Carlo, Grammatico Paola
Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):54-75. doi: 10.1002/ajmg.c.31431.
Gastrointestinal involvement is a well known complication of Ehlers-Danlos syndromes (EDSs), mainly in form of abdominal emergencies due to intestinal/abdominal vessels rupture in vascular EDS. In the last decade, a growing number of works investigated the relationship between a wide spectrum of chronic gastrointestinal complaints and various EDS forms, among which the hypermobility type (a.k.a. joint hypermobility syndrome; JHS/EDS-HT) was the most studied. The emerging findings depict a major role for gastrointestinal involvement in the health status and, consequently, management of JHS/EDS-HT patients. Nevertheless, fragmentation of knowledge limits its impact on practice within the boundaries of highly specialized clinics. In this paper, literature review on gastrointestinal manifestations in JHS/EDS-HT was carried out and identified papers categorized as (i) case-control/cohort studies associating (apparently non-syndromic) joint hypermobility and gastrointestinal involvement, (ii) case-control/cohort studies associating JHS/EDS-HT and gastrointestinal involvement, (iii) case reports/series on various gastrointestinal complications in (presumed) JHS/EDS-HT, and (iv) studies reporting gastrointestinal features in heterogeneous EDS patients' cohorts. Gastrointestinal manifestations of JHS/EDS-HT were organized and discussed in two categories, including structural anomalies (i.e., abdominal/diaphragmatic hernias, internal organ/pelvic prolapses, intestinal intussusceptions) and functional features (i.e., dysphagia, gastro-esophageal reflux, dyspepsia, recurrent abdominal pain, constipation/diarrhea), with emphasis on practice and future implications. In the second part of this paper, a summary of possible nutritional interventions in JHS/EDS-HT was presented. Supplementation strategies were borrowed from data available for general population with minor modifications in the light of recent discoveries in the pathogenesis of selected JHS/EDS-HT features.
胃肠道受累是埃勒斯-当洛综合征(EDS)的一种众所周知的并发症,主要表现为血管性EDS中因肠/腹部血管破裂导致的腹部急症。在过去十年中,越来越多的研究探讨了各种慢性胃肠道症状与不同类型EDS之间的关系,其中活动度过高型(又称关节活动过度综合征;JHS/EDS-HT)是研究最多的。新出现的研究结果表明,胃肠道受累在JHS/EDS-HT患者的健康状况及管理中起着重要作用。然而,知识的碎片化限制了其在高度专业化诊所范围内对实践的影响。本文对JHS/EDS-HT的胃肠道表现进行了文献综述,并确定了分类如下的论文:(i)将(明显非综合征性的)关节活动过度与胃肠道受累相关联的病例对照/队列研究;(ii)将JHS/EDS-HT与胃肠道受累相关联的病例对照/队列研究;(iii)关于(疑似)JHS/EDS-HT各种胃肠道并发症的病例报告/系列;以及(iv)报告异质性EDS患者队列中胃肠道特征的研究。JHS/EDS-HT的胃肠道表现分为两类进行组织和讨论,包括结构异常(即腹/膈疝、内脏/盆腔脱垂、肠套叠)和功能特征(即吞咽困难、胃食管反流、消化不良、反复腹痛、便秘/腹泻),并重点关注实践及未来意义。本文第二部分介绍了JHS/EDS-HT可能的营养干预措施总结。补充策略借鉴了普通人群的现有数据,并根据近期对特定JHS/EDS-HT特征发病机制的发现进行了细微调整。
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