Damage to the digestive tract and connective tissue dysplasia

Introduction. Connective tissue (CT) forms the structural and functional basis of all organ systems in the human body, including the gastrointestinal (GI) tract. Congenital CT disorders, commonly referred to as connective tissue dysplasia (CTD), result from mutations in genes encoding extracellular matrix proteins. CTD includes both differentiated forms, such as Marfan syndrome and Ehlers-Danlos syndrome, and undifferentiated CTD (UCTD), which lacks a specific clinical pattern. UCTD is highly prevalent, affecting up to 20% of the population, and is associated with GI disorders in more than 69% of pediatric cases. Methods. A literature review was conducted to evaluate the impact of CTD on the GI tract, focusing on anatomical abnormalities, motor disturbances, inflammation, microbiota alterations, and associated complications. Clinical data on structural changes, dysmotility syndromes, and comorbidities were analyzed. Results. CTD leads to a wide spectrum of gastrointestinal abnormalities, including motor and tonic dysfunction, sphincter weakness, and various types of reflux (gastroesophageal, duodenogastric, biliary-pancreatic). Structural anomalies of the oral cavity (e. g., high-arched palate, malocclusion, macroglossia) impair food processing and increase digestive load. Visceroptosis and elongation of hollow organs (dolichosigmoid, megacolon, elongated gallbladder) result in impaired motility and stagnation, promoting diverticulosis and chronic inflammation. CTD is associated with a higher incidence of inflammatory diseases of the upper GI tract (esophagitis, gastritis, duodenitis), dysbiosis, and atypical peptic ulcers. Gastrointestinal manifestations also include a more severe course of irritable bowel syndrome and celiac disease, with increased visceral hypersensitivity, dysmotility, and persistent intestinal inflammation. Discussion. CTD predisposes individuals to polymorphic GI pathology, with a distinctive clinical course and complications. Underlying mechanisms involve autonomic dysfunction, impaired collagen synthesis, reduced smooth muscle tone, and structural disorganization of the extracellular matrix. Given the prevalence and systemic nature of UCTD, early recognition and stratification of at-risk patients are essential for individualized preventive and therapeutic strategies. Conclusion. Connective tissue dysplasia significantly influences gastrointestinal health, contributing to the development and progression of various digestive disorders. Recognizing patients with both differentiated and undifferentiated forms of CTD is crucial for timely diagnosis and for optimizing management plans to reduce complications and improve outcomes.

connective tissue dysplasia, gastrointestinal tract, reflux, dysmotility, undifferentiated CTD, dysbiosis, celiac disease, visceroptosis

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