Background: Classical-like Ehlers Danlos Syndrome type 1 (clEDS1) is a very rare form of Ehlers Danlos Syndrome (EDS) caused by tenascin-X (TNX) deficiency, with only 56 individuals reported. TNX is an extracellular matrix protein needed for collagen stability. Previous publications propose that individuals with clEDS1 might be at risk for gastrointestinal (GI) tract perforations and/or tracheal ruptures.
View Article and Find Full Text PDFUnited European Gastroenterol J
January 2025
Introduction: Chronic nausea and vomiting are symptoms of a wide range of gastrointestinal and non-gastrointestinal conditions. Diagnosis can be challenging and requires a systematic and well-structured approach. If the initial investigation for structural, toxic and metabolic disorders is negative, digestive motility and gut-brain interaction disorders should be assessed.
View Article and Find Full Text PDFHypermobility spectrum disorders (HSD) and hypermobility Ehlers-Danlos syndrome (hEDS) are frequently associated with gastrointestinal symptoms, although the underlying mechanisms remain unclear. This study aimed to compare antroduodenal motility in patients with and without HSD/hEDS. We included 239 patients (50 HSD/hEDS and 189 non-HSD/hEDS) with gastrointestinal symptoms undergoing antroduodenal manometry (ADM).
View Article and Find Full Text PDFUnited European Gastroenterol J
January 2025