S4530 When Laxity Meets Looping: Endoscopic Challenges in Patients With Hypermobility Spectrum Disorder

Introduction: Hypermobility spectrum disorder (HSD) is a connective tissue disorder characterized by joint hypermobility and generalized connective tissue laxity. HSD is the more common type of joint hypermobility disorders and often presents with symptoms that overlap with irritable bowel syndrome (IBS), including bloating, abdominal pain, constipation, and diarrhea. These patients frequently undergo gastrointestinal evaluations often without formal diagnosis of HSD. During routine endoscopic practice, we observed that patients with suspected HSD frequently presented with technically difficult colonoscopies due to tortuous colons with excessive colonic looping. We present a case series highlighting these findings and hypothesize that connective tissue abnormalities in HSD may predispose patients to colonic tortuosity, redundancy, and elongation complicating standard endoscopic techniques. Case Description/Methods: Five patients with known or suspected HSD underwent screening or diagnostic colonoscopies. All cases were performed by the same gastroenterologist (SC) who encountered significant procedural challenges due to colonic tortuosity, redundancy and looping. Discussion: This case series suggests that connective tissue abnormalities in HSD may contribute to colonic structural changes that may complicate standard colonoscopic techniques. We propose that anticipating technical challenges in patients with known or suspected HSD can inform pre-procedural planning, such as allocating additional time for the procedure and/or selecting alternative endoscopic equipment and bowel preparation formulas. Second, recognizing this association may reduce the risk of procedural complications, such as perforation or incomplete examinations. Finally, awareness may lead to earlier identification and diagnosis of HSD in patients with recurrent procedural difficulties, especially when other systemic features are present. Educating physicians about simple screening techniques for HSD, such as the Beighton score, and increasing the awareness of HSD’s association with gastrointestinal structural abnormalities can lead to enhanced patient safety, improved procedural effectiveness, and better diagnostic outcomes in this often-underdiagnosed group.

Publication Details

Journal
The American Journal of Gastroenterology
Published
2025-10-01
DOI
https://doi.org/10.14309/01.ajg.0001145580.32509.a3
Primary Topic
Connective tissue disorders research
Type
article
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article

S4530 When Laxity Meets Looping: Endoscopic Challenges in Patients With Hypermobility Spectrum Disorder

The American Journal of Gastroenterology
Connective tissue disorders research
article

S4530 When Laxity Meets Looping: Endoscopic Challenges in Patients With Hypermobility Spectrum Disorder

article en

Abstract

Introduction: Hypermobility spectrum disorder (HSD) is a connective tissue disorder characterized by joint hypermobility and generalized connective tissue laxity. HSD is the more common type of joint hypermobility disorders and often presents with symptoms that overlap with irritable bowel syndrome (IBS), including bloating, abdominal pain, constipation, and diarrhea. These patients frequently undergo gastrointestinal evaluations often without formal diagnosis of HSD. During routine endoscopic practice, we observed that patients with suspected HSD frequently presented with technically difficult colonoscopies due to tortuous colons with excessive colonic looping. We present a case series highlighting these findings and hypothesize that connective tissue abnormalities in HSD may predispose patients to colonic tortuosity, redundancy, and elongation complicating standard endoscopic techniques. Case Description/Methods: Five patients with known or suspected HSD underwent screening or diagnostic colonoscopies. All cases were performed by the same gastroenterologist (SC) who encountered significant procedural challenges due to colonic tortuosity, redundancy and looping. Discussion: This case series suggests that connective tissue abnormalities in HSD may contribute to colonic structural changes that may complicate standard colonoscopic techniques. We propose that anticipating technical challenges in patients with known or suspected HSD can inform pre-procedural planning, such as allocating additional time for the procedure and/or selecting alternative endoscopic equipment and bowel preparation formulas. Second, recognizing this association may reduce the risk of procedural complications, such as perforation or incomplete examinations. Finally, awareness may lead to earlier identification and diagnosis of HSD in patients with recurrent procedural difficulties, especially when other systemic features are present. Educating physicians about simple screening techniques for HSD, such as the Beighton score, and increasing the awareness of HSD’s association with gastrointestinal structural abnormalities can lead to enhanced patient safety, improved procedural effectiveness, and better diagnostic outcomes in this often-underdiagnosed group.

The American Journal of GastroenterologyVol. 120(10S2)
Good health and well-being
Openalex Percentile: Top 28%
Connective tissue disorders research
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S4530 When Laxity Meets Looping: Endoscopic Challenges in Patients With Hypermobility Spectrum Disorder · The American Journal of Gastroenterology (2025) | TGRS Research Map | TGRS