Work

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

Year: 2024

Type: article

Abstract: 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.

Source: International Journal of Surgery Case Reports

DOI: 10.1016/j.ijscr.2024.110294

Authors: Farid Abi Habib, Michael Osseis, Alain Chebly, Elie El Feghali, Roger Noun

Institutions: Saint Joseph University, Hôtel-Dieu de France

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,800