Study: Three gastrointestinal subtypes of hEDS/HSD discovered
Researchers used machine learning to ID patients with distinctive GI symptoms
Scientists have discovered three subgroups related to different gastrointestinal problems among people with hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD), a study reveals.
Some people had hEDS or HSD without the symptoms, while others also had irritable bowel syndrome (IBS), a condition associated with abdominal cramps, bloating, diarrhea, and constipation. A third group was characterized by both IBS and functional foregut disorders (FFDs), including indigestion, difficulty swallowing, heartburn, chronic nausea, and vomiting.
“Within hEDS/HSD, subgroups exist with a high prevalence of FFD and IBS,” the researchers wrote. “Further research should focus on healthcare utilization, management and prognosis in hEDS/HSD and [gastrointestinal] overlap.”
The study, “A machine learning approach to stratify patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders according to disorders of gut brain interaction, comorbidities and quality of life,” was published in Neurogastroenterology & Motility.
the most common type of Ehlers-Danlos syndrome, hEDS is marked by overly mobile joints, soft and fragile skin, and spinal deformities (scoliosis). When the symptoms overlap, HSD is diagnosed when hEDS has been ruled out.
Several studies report gastrointestinal (GI) problems among hEDS/HSD patients. For example, children and young adults with hEDS have a higher prevalence of constipation and digestive symptoms, and teens with hEDS are more than twice as likely to develop IBS.
“While there is a known association between hEDS/HSD and gastrointestinal issues, not all individuals with hEDS/HSD experience these symptoms,” wrote researchers who were led by scientists at Queen Mary University of London, who used machine learning methods to identify groups of patients with distinctive patterns of GI-related symptoms. The clinical dataset included 1,044 people, ages 18-75, with hEDS/HSD; most being women (87.8%). “Identification of such specific disease clusters may have implications for understanding [disease development] and for improving management of these complex disorders.”
ID’ing GI symptoms with hEDS/HSD
The patients were segregated into three clusters: cluster 0 with IBS and FFDs, cluster 1 with IBS alone, and cluster 2 without GI complications.
Cluster 0 was made up of 466 patients with both IBS and FFDs, including indigestion, difficulty swallowing, heartburn, belching, chronic nausea and vomiting, and regurgitating undigested or partially digested food, called rumination. Two out of three patients (67.6%) had IBS.
Cluster 1 had 180 patients, all with IBS, and significantly fewer FFDs than cluster 0. There was significantly less indigestion (10% vs. 100%), difficulty swallowing (21.7% vs. 49.4%), heartburn (6.1% vs. 21.9%), belching (3.9% vs. 14.2%), chronic nausea and vomiting (7.2% vs. 18.7%), and rumination (15% vs. 30.3%).
Cluster 2 consisted of 337 patients without IBS and very few GI complications, such as constipation, which occurred in about 1 in 10 (11.6%) patients. There was significantly less indigestion (3% vs. 100%), difficulty swallowing (8.3% vs. 49.4%), heartburn (2.7% vs. 21.9%), belching (0.9% vs. 14.2%), chronic nausea and vomiting (2.1% vs. 18.7%), and rumination (5.9% vs. 30.3%) compared with cluster 0.
When compared with various clinical and patient-reported assessments, hEDS/HSD patients with both IBS and FFDs had significantly more anxiety, depression, and reduced quality of life than those with hEDS/HSD alone. hEDS/HSD with IBS and FFD also led to significant worsening of somatization, that is, having emotional distress as physical symptoms, symptoms associated with the autonomic nervous system that controls involuntary bodily functions, and postural orthostatic tachycardia syndrome (PoTS), a fast heart rate and dizziness when standing up.
Likewise, hEDS/HSD patients with IBS also had significantly worse somatization than those with hEDS/HSD alone. They had more pain in the back, in the arms/legs/joints, and headaches, along with dizziness, fainting spells, palpitations, shortness of breath, lethargy, and insomnia than hEDS/HSD alone. Health-related quality of life was worse than in patients without GI symptoms, but better than those with both IBS and FFDs.
“The development of [GI] symptoms may depend on additional factors such as diet, lifestyle, stress levels, coexisting medical conditions, or even differences in gut microbiota [the community of microbes living in the human body],” wrote the researchers, who noted they weren’t able to determine what those factors were, but said further research would be “valuable.”
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