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埃勒斯-当洛综合征概述以及体位性直立性心动过速综合征与胃肠道症状之间的联系,重点关注胃轻瘫。

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

作者信息

Wu William, Ho Vincent

机构信息

Department of Gastroenterology, Campbelltown Hospital, Campbelltown, NSW, Australia.

School of Medicine, Western Sydney University, Campbelltown, NSW, Australia.

出版信息

Front Neurol. 2024 Aug 29;15:1379646. doi: 10.3389/fneur.2024.1379646. eCollection 2024.

Abstract

There has been an increasingly reported association between Ehlers-Danlos syndrome (EDS), postural orthostatic tachycardia syndrome (POTS) and gastrointestinal disorders. EDS is a hereditary connective tissue disorder which may manifest as a spectrum of symptoms stemming from collagen defects. The prevalence of EDS is estimated to affect 1 in 5000 individuals which underscores its clinical significance. Notably the hypermobile form (hEDS) accounts for the majority of cases. POTS is characterized by orthostatic intolerance with an increase in heart rate on standing in the absence of hypotension. This condition predominantly affects women between 15 and 45 years of age. Gastrointestinal symptoms in the form of reflux, bloating and abdominal pain significant impact this population. Gastroparesis is a chronic disorder involving symptoms of delayed gastric emptying and may be closely associated with hEDS and POTS, and may be underreported. Autonomic dysfunction associated with hEDS has been proposed as the likely mechanism underlying POTS and gastrointestinal dysfunction though a clear pathophysiological process has not been established.

摘要

越来越多的报告表明,埃勒斯-当洛综合征(EDS)、体位性直立性心动过速综合征(POTS)与胃肠道疾病之间存在关联。EDS是一种遗传性结缔组织疾病,可能表现为一系列由胶原蛋白缺陷引起的症状。据估计,EDS的患病率为五千分之一,这凸显了其临床意义。值得注意的是,活动过度型(hEDS)占大多数病例。POTS的特征是体位不耐受,在无低血压的情况下站立时心率增加。这种疾病主要影响15至45岁的女性。反流、腹胀和腹痛等胃肠道症状对这一人群有重大影响。胃轻瘫是一种慢性疾病,涉及胃排空延迟的症状,可能与hEDS和POTS密切相关,且可能未得到充分报告。虽然尚未明确其病理生理过程,但与hEDS相关的自主神经功能障碍被认为是POTS和胃肠道功能障碍的潜在机制。

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