Gastrointestinal involvement in Ehlers-Danlos syndrome classical-like type 2 associated with a novel AEBP1 splice-site variant.
Hikaru Nakahara, Tomomi Yamaguchi, Hiroaki Niitsu et al.
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Case in brief
A 16th patient with Ehlers-Danlos syndrome classical-like type 2 (clEDS2) presented with spontaneous bowel perforation following rectal cancer surgery. Genetic analysis revealed a homozygous AEBP1 splice-site variant leading to a loss of function. Histopathological evaluation showed mildly widened intermuscular spaces in the affected colonic tissue. The patient later experienced a spontaneous small intestinal perforation nearly 20 years post-surgery.
What made this case unusual
This case highlights gastrointestinal complications, specifically spontaneous bowel perforation, in clEDS2, which are rarely reported and poorly characterized in the literature.
Diagnostic / clinical pearl
Clinicians should be aware that gastrointestinal manifestations in AEBP1-related clEDS2 may present differently than those in vascular Ehlers-Danlos syndrome, necessitating careful monitoring.
Why it matters
Understanding the gastrointestinal involvement in clEDS2 can improve clinical awareness and management strategies for patients with this rare connective tissue disorder.