# Ehlers-Danlos syndrome and the risk of spontaneous colonic perforation: clinical insights and surgical implications

**Authors:** Daniela Gaspar, João L Pinheiro, Andreia Santos, Carolina Canhoto, Rosa Simão, Raquel Barros Pereira, Jorge Pereira

PMC · DOI: 10.1093/jscr/rjaf558 · Journal of Surgical Case Reports · 2025-07-25

## TL;DR

This paper discusses a rare case where a patient was diagnosed with Ehlers-Danlos Syndrome after experiencing a spontaneous colonic perforation.

## Contribution

The novelty lies in presenting colonic perforation as the initial and rare clinical manifestation of Ehlers-Danlos Syndrome.

## Key findings

- Colonic perforation can be the first sign of Ehlers-Danlos Syndrome.
- The vascular subtype of EDS is associated with severe gastrointestinal complications.
- Early diagnosis is crucial for managing life-threatening complications in EDS patients.

## Abstract

Ehlers-Danlos Syndromes (EDS) are a group of genetic connective tissue disorders classified into to 13 subtypes according to different genetic mutations. The vascular subtype, also known as Type IV, is considered the most severe subtype and is associated with dire complications. Spontaneous gastrointestinal perforation is the most commonly described digestive complication, with colonic perforation accounting for most cases. We report a challenging case of EDS, diagnosed with colonic perforation as the initial presentation of the disease.

## Linked entities

- **Diseases:** Ehlers-Danlos Syndromes (MONDO:0020066), Ehlers-Danlos Syndrome (MONDO:0020066)

## Full-text entities

- **Diseases:** colonic perforation (MESH:D015179), EDS (MESH:D004535), gastrointestinal perforation (MESH:D005767)

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12291538/full.md

## References

6 references — full list in the complete paper: https://tomesphere.com/paper/PMC12291538/full.md

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Source: https://tomesphere.com/paper/PMC12291538