Surviving the storm: A 6-year journey with bowel perforations and aneurysms in vascular Ehlers-Danlos syndrome - A case report.

INTRODUCTION

Throughout the literature, many cases of vascular Ehlers-Danlos were reported with a variation of its clinical presentation. This disease may present in many forms and aspects and some even die before seeking medical care and getting the right diagnosis due to its hard effect on patients.

CASE PRESENTATION: We report a case of a 25-year-old female patient with a history of multiple bowel perforations that were operated on urgently numerous times and received many courses of a large spectrum of antibiotics for various infections.

CLINICAL DISCUSSION: Further investigations showed that the patient had multiple aneurysms due to her disease, a hepatic aneurysm, a paraspinal, and a severally symptomatic wrist aneurysm. The patient presented a de novo variant in the COL3A1 gene. A management plan was personalized, and a family genetic investigation was carried out.

CONCLUSION

This article contains a full history of this patient including all the surgical, medical, and radiological interventions.