Association Between Pseudoxanthoma Elasticum and Bleeding

Pseudoxanthoma Elasticum (PXE) is a rare genetic disease caused by a mutation of the ABCC6 gene, resulting in calcification of elastic fibers of the skin, eye and other organs and tissues that contain elastin. Because calcified arteries can bleed, hemorrhage from various organs is a reported complication of PXE. We conducted a literature review of all English language published articles reporting bleeding in patients with PXE. In this literature review, we identified 51 papers. Of those, 30 (59%) included at least 1 case of bleeding. Within these 30 papers, bleeding was reported in a total of 130 patients. Of the cases of bleeding, 113 occurred in the gastrointestinal tract, 12 occurred in the brain, 2 in the skin, 1 in the nose, 1 in the gums and 1 in the uterus. Clinicians and patients should be made aware of the risk of these significant complications, to facilitate preventive measures, prompt recognition and treatment.