Malabsorption in Marfan (Ehlers-Danlos) syndrome

Area of Science:

• Gastroenterology
• Genetics
• Connective Tissue Diseases

Background:

• Marfan syndrome and Ehlers-Danlos syndrome are inherited connective tissue disorders.
• Patients may present with complex gastrointestinal manifestations.
• Intestinal malabsorption can significantly impact patient health and nutrition.

Purpose of the Study:

• To describe a case of severe intestinal malabsorption in a patient with features of Marfan and Ehlers-Danlos syndromes.
• To explore the potential link between connective tissue defects and intestinal abnormalities.
• To investigate the underlying causes of functional and structural intestinal issues.

Main Methods:

• Case report of a patient with somatic features of Marfan and Ehlers-Danlos syndromes.
• Clinical evaluation including assessment of intestinal malabsorption.
• Diagnostic considerations for bacterial overgrowth, small intestinal hypomotility, and jejunal diverticula.

Main Results:

• The patient presented with severe intestinal malabsorption.
• Functional abnormalities included bacterial overgrowth and small intestinal hypomotility with giant jejunal diverticula.
• Structural intestinal defects were presumed to stem from defective collagen synthesis.

Conclusions:

• Hereditary connective tissue disorders like Marfan and Ehlers-Danlos syndromes can manifest with severe gastrointestinal complications.
• Defective collagen synthesis may underlie structural intestinal defects, leading to functional abnormalities such as malabsorption and bacterial overgrowth.
• This case highlights the importance of considering connective tissue disorders in patients with unexplained intestinal problems.