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Neurogastroenterol Motil. 2015 Nov;27(11):1657-66. doi: 10.1111/nmo.12665. Epub 2015 Sep 16.

Ehlers Danlos syndrome and gastrointestinal manifestations: a 20-year experience at Mayo Clinic.

Author information

1
Clinical Enteric Neuroscience Translational and Epidemiological Research (CENTER) , Rochester, MN, USA.
2
Division of Medical Genetics, Mayo Clinic, Rochester, MN, USA.

Abstract

BACKGROUND:

Gastrointestinal (GI) manifestations are found in Ehlers Danlos syndrome (EDS) hypermobility subtype (HM). We aimed to assess associations between EDS HM and other EDS subtypes with GI manifestations.

METHODS:

We reviewed medical records of EDS patients evaluated at Mayo Clinic's Medical Genetics Clinic 1994-2013. We extracted information regarding EDS subtypes, GI manifestations, and treatments.

KEY RESULTS:

We identified 687 patients; 378 (56%) had associated GI manifestations (female 86.8%, diagnosis mean age 29.6 years). Of the patients identified, 58.9% (43/73) had EDS classic, 57.5% (271/471) EDS HM, 47.3% (27/57) EDS vascular subtypes. In addition, 86 patients had EDS that could not be classified in any of those three subtypes. Commonest GI symptoms were: abdominal pain (56.1%), nausea (42.3%), constipation (38.6%), heartburn (37.6%), and irritable bowel syndrome-like symptoms (27.5%). Many GI symptoms were commoner in EDS HM than the other subtypes together. Among 37.8% of the 378 patients who underwent esophagogastroduodenoscopy, the commonest abnormalities were gastritis, hiatal hernia and reflux esophagitis. Abnormal gastric emptying was observed in 22.3% (17/76): 11.8% delayed and 10.5% accelerated. Colonic transit was abnormal in 28.3% (13/46): 19.6% delayed and 8.7% accelerated. Rectal evacuation disorder was confirmed in 18/30 patients who underwent anorectal manometry. Angiography showed aneurysms in abdominal vessels in EDS vascular type. Proton pump inhibitors (38%) and drugs for constipation (23%) were the most commonly used medications. A minority underwent colectomy (2.9%) or small bowel surgery (4%).

CONCLUSIONS & INFERENCES:

EDS HM and other subtypes should be considered in patients with chronic functional GI symptoms and abdominal vascular lesions.

KEYWORDS:

constipation; heartburn; hypermobility; vascular

PMID:
26376608
DOI:
10.1111/nmo.12665
[Indexed for MEDLINE]

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