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关节过度活动综合征/埃勒斯-当洛综合征(过度活动型)中的胃肠道和营养问题

Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

作者信息

Castori Marco, Morlino Silvia, Pascolini Giulia, Blundo Carlo, Grammatico Paola

出版信息

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):54-75. doi: 10.1002/ajmg.c.31431.


DOI:10.1002/ajmg.c.31431
PMID:25821092
Abstract

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.

摘要

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。

相似文献

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引用本文的文献

[1]
An overview of Ehlers Danlos syndrome and the link between postural orthostatic tachycardia syndrome and gastrointestinal symptoms with a focus on gastroparesis.

Front Neurol. 2024-8-29

[2]
High prevalence of gastrointestinal disorders in a large cohort of patients with joint hypermobility.

J Pediatr Gastroenterol Nutr. 2024-7

[3]
Relationship Between Psychological Trauma and Irritable Bowel Syndrome and Functional Dyspepsia in a Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Patient Population.

Dig Dis Sci. 2024-3

[4]
Hypermobility spectrum disorders: A review.

Rheumatol Immunol Res. 2023-7-22

[5]
Outcomes Following Anterior Cervical Discectomy and Fusion in Patients With Ehlers-Danlos Syndrome.

Global Spine J. 2024-7

[6]
Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities.

Genes (Basel). 2022-11-15

[7]
Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know.

J Gastroenterol Hepatol. 2022-9

[8]
The Mystery of Ehlers-Danlos Syndrome: An Autobiographical Case Report.

Cureus. 2022-1-25

[9]
Considerations for lactation with Ehlers-Danlos syndrome: a narrative review.

Int Breastfeed J. 2022-1-4

[10]
A Novel Method of Temporomandibular Joint Hypermobility Diagnosis Based on Signal Analysis.

J Clin Med. 2021-11-2

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