Quigley Eamonn M M, Noble Oscar, Ansari Usman
Division of Gastroenterology and Hepatology, Lynda K. and David M. Under wood Center for Digestive Disorders, Houston Methodist Hospital and Weill Cornell Medical College, Houston, Texas.
Gastroenterol Hepatol (N Y). 2024 Aug;20(8):479-489.
An increasing number of reports suggest an association between a newly recognized disease cluster and significant and often disabling gastrointestinal (GI) symptoms. This cluster is composed of diagnoses of hypermobility spectrum disorders (HSDs) such as joint hypermobility and hypermobile variant Ehlers-Danlos syndrome (hEDS), postural orthostatic tachycardia syndrome (POTS), and mast cell activation syndrome (MCAS). The diagnosis of these entities remains a challenge, as the pathophysiology of each has not been completely elucidated and the diagnostic criteria continue to evolve. This article describes a cohort of young adult females who shared similar GI symptoms, with intractable nausea and vomiting being most prominent and gastroesophageal reflux disease and constipation also occurring. Most strikingly, these females also exhibited or reported a history of HSD, hEDS, POTS, and/or MCAS. The clinical course of their GI symptoms was remarkable for considerable challenges in management, and artificial nutritional support proved necessary for some. This article describes the clinical features and outcomes of their GI manifestations, examines how these manifestations might be linked to their systemic syndromes, and discusses whether a shared pathophysiology exists. Pending the definition of a common thread between these conditions, this article seeks to raise awareness of their clinical definitions and foster research that will hopefully improve outcomes for these patients.
越来越多的报告表明，一种新发现的疾病群与严重且往往致残的胃肠道（GI）症状之间存在关联。该疾病群由诸如关节活动过度和活动过度型埃勒斯-当洛综合征（hEDS）、体位性直立性心动过速综合征（POTS）以及肥大细胞活化综合征（MCAS）等活动过度谱系障碍（HSDs）的诊断组成。这些疾病的诊断仍然是一项挑战，因为每种疾病的病理生理学尚未完全阐明，诊断标准也在不断演变。本文描述了一组有相似胃肠道症状的年轻成年女性，其中顽固性恶心和呕吐最为突出，同时也出现胃食管反流病和便秘。最引人注目的是，这些女性还表现出或有HSD、hEDS、POTS和/或MCAS病史。她们胃肠道症状的临床过程在管理方面面临相当大的挑战，对一些人来说人工营养支持被证明是必要的。本文描述了她们胃肠道表现的临床特征和结果，探讨了这些表现如何与她们的全身综合征相关联，并讨论了是否存在共同的病理生理学。在确定这些病症之间的共同线索之前，本文旨在提高对其临床定义的认识，并促进有望改善这些患者治疗结果的研究。
