Department of Medicine, Division of Gastroenterology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston.
Department of Psychology, Endicott College, Beverly, MA.
J Clin Gastroenterol. 2019 Oct;53(9):653-659. doi: 10.1097/MCG.0000000000001173.
Prior studies have shown a high prevalence of gastrointestinal (GI) symptoms, diagnoses of functional GI diseases (FGIDs), and pelvic floor symptoms associated with Ehlers-Danlos syndrome (EDS). It is unclear if Marfan syndrome (MFS), another common hereditary noninflammatory connective tissue disorder, is also associated these symptoms. This study evaluates the prevalence of and compares FGIDs and pelvic floor symptoms in a national cohort of EDS and MFS patients.
A questionnaire was sent to members of local and national MFS and EDS societies. The questionnaire evaluated the presence of GI and pelvic floor symptoms and diagnoses. The presence of FGIDs was confirmed using Rome III criteria. Quality of life was evaluated and scored with the CDC quality of life.
Overall, 3934 patients completed the questionnaire, from which 1804 reported that they had some form of EDS and 600 had MFS. In total, 93% of patients with EDS complained of GI symptoms and qualified for at least one FGID compared with 69.8% of patients with MFS. When comparing EDS prevalence of upper and lower GI symptoms as well as FGIDs, subjects with EDS reported significantly higher prevalence of Rome III FGIDs as compared with those with MFS. Irritable bowel syndrome (57.8% vs. 27.0%, P<0.001), functional dyspepsia (FD) (55.4% vs. 25.0%, P<0.001), postprandial distress (49.6% vs. 21.7%, P<0.001), heartburn (33.1% vs. 16.8%, P<0.001), dysphagia (28.5% vs. 18.3%, P<0.001), aerophagia (24.7% vs. 12.3%, P<0.001), and nausea (24.7% vs. 7.2%, P<0.001) were all significantly greater in the EDS population compared with MFS population. The prevalence of FGIDs was similar across subtypes of EDS. In general, participants with EDS were more likely to have nearly all pelvic floor symptoms as compared with participants with MFS.
The prevalence of FGIDs and pelvic floor symptoms in EDS is higher than that found in MFS. The prevalence of FGIDs were similar across EDS subtypes. This study supports the mounting evidence for FGIDs in those with connective tissue diseases, but more specifically, in EDS.
先前的研究表明，胃肠道（GI）症状、功能性 GI 疾病（FGIDs）的诊断以及与埃勒斯-当洛斯综合征（EDS）相关的盆底症状的患病率较高。目前尚不清楚另一种常见的遗传性非炎症性结缔组织疾病马凡综合征（MFS）是否也与这些症状相关。本研究评估了全国性 EDS 和 MFS 患者队列中 FGIDs 和盆底症状的患病率，并对其进行了比较。
向当地和全国性的 MFS 和 EDS 协会成员发送了一份调查问卷。该问卷评估了 GI 和盆底症状以及诊断的存在情况。使用 Rome III 标准确认 FGIDs 的存在。使用疾病预防控制中心的生活质量评分评估生活质量。
总体而言，共有 3934 名患者完成了问卷，其中 1804 名报告患有某种形式的 EDS，600 名患有 MFS。总的来说，93%的 EDS 患者抱怨有胃肠道症状，并且至少有一种 FGID，而 MFS 患者的这一比例为 69.8%。在比较 EDS 上、下胃肠道症状和 FGIDs 的患病率时，与 MFS 患者相比，EDS 患者报告的 Rome III FGIDs 患病率显著更高。肠易激综合征（57.8%比 27.0%，P<0.001）、功能性消化不良（FD）（55.4%比 25.0%，P<0.001）、餐后不适（49.6%比 21.7%，P<0.001）、烧心（33.1%比 16.8%，P<0.001）、吞咽困难（28.5%比 18.3%，P<0.001）、吞气症（24.7%比 12.3%，P<0.001）和恶心（24.7%比 7.2%，P<0.001）在 EDS 人群中均显著高于 MFS 人群。不同类型的 EDS 中 FGIDs 的患病率相似。一般来说，与 MFS 患者相比，EDS 患者更有可能出现几乎所有的盆底症状。
EDS 患者 FGIDs 和盆底症状的患病率高于 MFS 患者。EDS 各亚型 FGIDs 的患病率相似。本研究支持结缔组织疾病患者 FGIDs 发病率不断上升的证据，但更具体地说，支持 EDS 患者 FGIDs 发病率上升的证据。
