Background & Aims

Individuals with hypermobility spectrum disorder or hypermobile Ehlers-Danlos Syndrome (HSD/hEDS) are increasingly encountered by gastroenterologists and pose complex clinical challenges. Uncontrolled studies have found functional gastrointestinal disorders (FGIDs) to be common in patients with HSD/hEDS. Some patients have somatic symptoms (medically unexplained symptoms) that might affect FGIDs. We performed a case–control study to determine the prevalence of and factors associated with Rome IV FGIDs in subjects with HSD/hEDS compared with age- and sex- matched population-based controls.

Methods

An online general health survey was completed by 603 individuals with HSD/hEDS in October 2018 (cases) and 603 matched individuals from the population of the United Kingdom (controls) in 2015. The mean participant age was 39 yrs, and 96% were women. The survey included questions about Rome IV FGIDs, non-GI and non-musculoskeletal somatic symptoms (maximum number, 10), quality of life, medical history and healthcare use. The prevalence of FGIDs was compared between cases and controls, with subsequent logistic regression models - adjusting for the number of somatic symptoms - used to determine the associations for FGIDs in HSD/hEDS compared with controls.

Results

Nearly all subjects (98%) with HSD/hEDS fulfilled symptom-based criteria for 1 or more Rome IV FGIDs, compared with 47% of controls (P < .0001). The gastrointestinal regions most commonly affected by FGIDs in individuals with HSD/hEDS and control subjects were the bowel (90% vs 40% of controls), gastroduodenal (70% vs 13% of controls), esophageal (56% vs 6% of controls), and anorectal (53% vs 9% of controls); P < .0001. A higher proportion of subjects with HSD/hEDS had FGIDs in 2 or more regions (84% vs 15% of controls; P < .0001). Subjects with HSD/hEDS also reported a significantly higher number of non-GI and non-musculoskeletal somatic symptoms (7.1 vs 3.3 in controls), lower quality of life, and greater healthcare use, including abdominal surgeries and medication use (for example, 84% used analgesics compared with 29% of controls). Almost 40% of subjects with HSD/hEDS reported a diagnosis of chronic fatigue syndrome and/or fibromyalgia. Following adjustments for somatic symptoms, the association for FGIDs in subjects with HSD/hEDS was reduced by as much as 4-fold and in some instances was eliminated.

Conclusions

In a large case–control study of persons with HSD/hEDS, almost all of the cases met criteria for Rome IV FGIDs, incurred considerable health impairment, and had high healthcare use. Patients with HSD/hEDS frequently have somatic symptoms that should be treated to reduce the high burden of gastrointestinal illness in this population.

中文翻译：

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Rome IV 功能性胃肠道疾病和过度活动性谱系障碍或过度活动性 Ehlers-Danlos 综合征受试者的健康损害。

背景与目标

胃肠病学家越来越多地遇到患有过度活动性谱系障碍或过度活动性 Ehlers-Danlos 综合征 (HSD/hEDS) 的个体，并带来复杂的临床挑战。非对照研究发现功能性胃肠道疾病 (FGID) 在 HSD/hEDS 患者中很常见。一些患者有可能影响 FGID 的躯体症状（医学上无法解释的症状）。我们进行了一项病例对照研究，以确定与年龄和性别匹配的基于人群的对照相比，HSD/hEDS 受试者中罗马 IV FGID 的患病率和相关因素。

方法

2018 年 10 月，603 名 HSD/hEDS 患者（病例）和 2015 年英国人口（对照组）的 603 名匹配个体完成了在线一般健康调查。平均参与者年龄为 39 岁，96% 为女性. 该调查包括有关罗马 IV FGID、非胃肠道和非肌肉骨骼躯体症状（最多 10 个）、生活质量、病史和医疗保健使用的问题。在病例和对照之间比较 FGID 的流行率，随后的逻辑回归模型 - 调整躯体症状的数量 - 用于确定与对照相比 HSD/hEDS 中 FGID 的关联。

结果

几乎所有 HSD/hEDS 受试者 (98%) 都满足基于症状的 1 个或多个罗马 IV FGID 标准，而对照组为 47% ( P < .0001)。在 HSD/hEDS 和对照受试者中，最常受 FGID 影响的胃肠道区域是肠道（对照的 90% 对 40%）、胃十二指肠（对照的 70% 对 13%）、食道（对照的 56% 对 6%） ) 和肛门直肠（53% 对 9% 的对照组）；P < .0001。较高比例的 HSD/hEDS 受试者在 2 个或更多区域具有 FGID（84% 对 15% 的对照；P< .0001）。患有 HSD/hEDS 的受试者还报告了显着更多的非胃肠道和非肌肉骨骼躯体症状（对照组为 7.1 对 3.3）、较低的生活质量和更多的医疗保健使用，包括腹部手术和药物使用（例如，84 % 使用镇痛剂，而对照组为 29%）。几乎 40% 的 HSD/hEDS 受试者报告诊断为慢性疲劳综合征和/或纤维肌痛。在对躯体症状进行调整后，HSD/hEDS 受试者中 FGID 的关联减少了 4 倍，并且在某些情况下被消除了。

结论

在一项针对 HSD/hEDS 患者的大型病例对照研究中，几乎所有病例都符合罗马 IV FGID 的标准，造成了相当大的健康损害，并且医疗保健使用率很高。HSD/hEDS 患者经常有躯体症状，应进行治疗以减轻该人群胃肠道疾病的高负担。