Audit of Gastrointestinal Manifestations in Patients with Loeys–Dietz Syndrome and Vascular Ehlers–Danlos Syndrome
Open accessAbstract
Objectives Loeys-Dietz syndrome (LDS) and vascular Ehlers-Danlos Syndrome (vEDS) are genetically heterogeneous heritable disorders of connective tissue. Both are multi-system disorders with dominant vascular pathology and associated gastrointestinal manifestations.Aim To summarize the abdominal manifestations found in these two disorders in a cohort of patients seen at Mayo Clinic during a period of 25 years.Methods Data were collected via the advanced cohort explorer (ACE) of Mayo Clinic records from 1994 to 2018 in patients with vEDS or LDS confirmed by genetic testing and/or medical genetics consultation. We extracted information concerning gastrointestinal symptoms, abdominal hernias, and vascular manifestations or complications.Results We identified and reviewed records of 68 vEDS and 13 LDS patients. Patients were similar in age at diagnosis and gender distribution. Gastrointestinal symptoms were frequently reported in both disorders and largely similar, although altered bowel function was more prevalent in LDS patients. Hernias were present in similar proportions of patients with vEDS and LDS; however, ventral hernias were more frequent and more likely to be postoperative in vEDS than LDS. LDS patients had more arterial aneurysms overall (76.9% LDS vs. 58% vEDS, p = 0.02) and a higher proportion required arterial repair (69.2% LDS vs. 32.7% vEDS S, p = 0.03). Co-morbidities of autonomic dysfunction, psychopathology (most commonly anxiety, depression, adjustment disorder), and allergy were more prevalent in LDS than vEDS.Conclusion Patients with vEDS and LDS had a propensity for gastrointestinal symptoms, abdominal hernias, and aneurysm formation, but repair for arterial rupture was more prevalent in LDS than EDS.
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Orthostatic intolerance was prevalent in 35.9% (95% CI 26.6-46.4, seven studies) of patients with hEDS/HSD.
“Finally, we found that orthostatic intolerance was prevalent in 35.9% (95% CI 26.6–46.4, seven studies [10, 22, 23, 24, 25, 26, 28]) of patients with hEDS/HSD, with considerable heterogeneity in the analysis (I 2 = 96.4, p = 0.0001) (Figure S44).”
From Meta-Analysis: Chronic Gastrointestinal Symptoms and Comorbidities in Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders (2026) · cites this paper as [28]
The Results > Comorbid Conditions section (page unavailable) includes orthostatic intolerance within autonomic dysfunction, so the paper addresses the outcome. But its patients had vascular Ehlers–Danlos syndrome or Loeys–Dietz syndrome, not hEDS/HSD, and it does not report the pooled 35.9% estimate or its confidence interval. (LLM, conf=0.87)
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- Authors
- Wang, X. J., Babameto, M., Babovic-Vuksanovic, D., Bowen, J. M., & Camilleri, M.
- Affiliations
- Mayo Clinic (US)
- Corresponding author
- Camilleri, Michael
- Venue
- Digestive Diseases and Sciences
- Published
- 2020-04-18
- Volume
- 66
- Issue
- 4
- Pages
- 1142-1152
- ISSN
- 0163-2116 (ISSN-L)
- 1573-2568
- PMC
- PMC7572752
- OpenAlex
- W3017312371
- Cited by
- 13
- References
- 21
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 2 · 2023: 2 · 2022: 3
- FWCI
- 0.73
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Digestive Diseases and Sciences (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (R01-DK115950, R01-DK67071)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Surgery › Vascular anomalies and interventions
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal motility and disorders
- Keywords
- Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, gastrointestinal manifestations, abdominal wall hernia, ventral hernia, arterial aneurysm, arterial reconstruction, autonomic dysfunction, anxiety, depression, allergy, connective tissue diseases
- MeSH terms
- Adolescent, Adult, Ehlers-Danlos Syndrome, Female, Gastrointestinal Diseases, Humans, Male, Middle Aged, Retrospective Studies, Genetic Variation, Cohort Studies, Collagen Type III, Clinical Audit, Young Adult, Loeys-Dietz Syndrome
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