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TL;DR
A 2.5-year-old boy with acute lower gastrointestinal bleeding was diagnosed with Ehlers-Danlos syndrome type IV after endoscopy revealed fragile mucosa that bled on contact, confirmed by a pathogenic COL3A1 gene mutation.
JPGN reports · 4 authors, 2 centres
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A 2.5-year-old boy with acute lower gastrointestinal bleeding was diagnosed with Ehlers-Danlos syndrome type IV after endoscopy revealed fragile mucosa that bled on contact, confirmed by a pathogenic COL3A1 gene mutation.
This case report describes a 2.5-year-old boy presenting with recurrent rectal bleeding. Initial emergency endoscopy identified two active cecal bleeding sites that were clipped. A follow-up endoscopy 6 weeks later showed mucosal desquamation and superficial bleeding upon endoscope contact, raising suspicion for a connective tissue disorder. Despite a lack of typical clinical dysmorphias beyond toe hypermobility, genetic testing revealed a pathogenic loss-of-function mutation in the COL3A1 gene, confirming a diagnosis of Ehlers-Danlos syndrome type IV. This case is noted as one of the earliest presentations of Ehlers-Danlos syndrome type IV with intestinal complications. The finding underscores the importance of considering rare connective tissue disorders in pediatric gastrointestinal bleeding, even without other classic symptoms, to enable early screening for potentially severe vascular complications.