Vascular type Ehlers-Danlos syndrome with intra-abdominal hemorrhage due to ruptured hepatic aneurysm: A case report

Abstract

Background: Vascular Ehlers-Danlos syndrome has a high mortality rate due to hemorrhagic complications.

Case presentation: We report a case of vascular-type Ehlers-Danlos syndrome diagnosed due to rupture of multiple celiac aneurysms. The patient was a 25-year-old Japanese man with a history of a sigmoid perforation. He was admitted to a nearby hospital because of abdominal pain. On day 9 of hospitalization, the patient experienced shock. Enhanced abdominal computed tomography revealed a hepatic aneurysm and intra-abdominal bleeding, and the patient was transferred to our hospital. Emergency abdominal angiography revealed multiple aneurysms in the celiac, common, and right hepatic arteries. The right hepatic artery was considered responsible and was embolized. The patient had characteristic physical findings of the syndrome, aiding in confirming the genetic analysis of COL3A1 gene abnormality.

Conclusion: Juvenile-onset colonic perforation and rupture of the celiac arteries are key findings in the suspicion of vascular-type Ehlers-Danlos syndrome.

Keywords: Ehlers‐Danlos syndrome; celiac artery aneurysm; connective tissue disorder; interventional radiology; trans‐arterial embolization.