A CASE OF PSEUDOXANTHOMA ELASTICUM WITH MASSIVE GASTRIC HEMORRHAGE AFTER ENDOSCOPIC BIOPSY

Abstract

A 57-year-old woman was admitted to our hospital with severe shock following massive hematemesis. One day prior to her admission, an upper endoscopic screening exam and gastric mucosal biopsy were performed. On admission, emergency upper gastrointestinal endoscopy revealed blood spurting from the upper body of the stomach. Endoscopic hemostasis using hemoclip was performed successfully. Follow-up endoscopy and contrast-enhanced CT revealed a gastric submucosal cirsoid aneurysm at the greater curvature of the upper body. She had been diagnosed with pseudoxanthoma elasticum (PXE) at the age of 45 years by characteristic retinal angioid streaks and skin biopsy. During her admission, a gene analysis study was performed, which revealed two ABCC6 mutations as being responsible for PXE. As gastrointestinal hemorrhage is a rare complication of PXE and can be a life-threatening event, extreme care is required when performing gastrointestinal endoscopy. This is the first case report in Japan of a patient with PXE with ABCC6 mutations with gastrointestinal hemorrhage.