Department of Health Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia.
Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia.
Am J Med Genet A. 2022 Jun;188(6):1761-1776. doi: 10.1002/ajmg.a.62705. Epub 2022 Feb 27.
Orthostatic intolerance (OI) is frequently reported in young women with generalized hypermobility spectrum disorder (G-HSD) and hypermobile EDS (hEDS). However, it remains currently unclear whether OI is a comorbidity or fundamental part of the pathophysiology of G-HSD or hEDS. This study investigated the prevalence and impact of OI in young women across the hypermobility spectrum. Forty-five women (14-30 years, 15 controls, 15 G-HSD, and 15 hEDS) undertook a head-up tilt (HUT) and active stand test. Postural Orthostatic Tachycardia Syndrome (POTS) and Orthostatic Hypotension (OH) were assessed using age-related criteria. Autonomic dysfunction and quality-of-life questionnaires were also completed. The prevalence of POTS was higher in women with G-HSD than hEDS and control groups during HUT (43% vs. 7% and 7%, respectively, p < 0.05), but similar between groups during the active stand (47%, 27%, and 13% for G-HSD, hEDS, and control, respectively). No participants had OH. hEDS and G-HSD participants reported more severe orthostatic symptoms and poorer quality of life than controls. Although POTS was observed in hypermobile participants, there is no conclusive evidence that its prevalence differed between groups due to differences between the HUT and active stand assessments. Nevertheless, OI and broader autonomic dysfunction impacted on their quality of life.
直立不耐受(OI)在患有广泛性运动障碍谱障碍(G-HSD)和运动过度型 EDS(hEDS)的年轻女性中经常被报道。然而,OI 是否是 G-HSD 或 hEDS 病理生理学的合并症或基本部分目前尚不清楚。本研究调查了年轻女性在整个运动障碍谱中 OI 的患病率和影响。45 名女性(14-30 岁,15 名对照,15 名 G-HSD 和 15 名 hEDS)进行了头高位倾斜(HUT)和主动站立测试。使用与年龄相关的标准评估体位性心动过速综合征(POTS)和直立性低血压(OH)。还完成了自主神经功能障碍和生活质量问卷。在 HUT 期间,G-HSD 女性的 POTS 患病率高于 hEDS 和对照组(分别为 43%、7%和 7%,p<0.05),但在主动站立期间,各组之间的患病率相似(分别为 47%、27%和 13%)。没有参与者出现 OH。hEDS 和 G-HSD 参与者报告的直立症状更严重,生活质量更差,比对照组差。尽管在运动过度的参与者中观察到了 POTS,但由于 HUT 和主动站立评估之间的差异,没有确凿的证据表明其患病率在各组之间存在差异。然而,OI 和更广泛的自主神经功能障碍影响了他们的生活质量。