355 Fatal Pulmonary Hypertension Due to Extensive Calcifications in Pseudoxanthoma Elasticum: An Autopsy Case Study

Introduction/Objective Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by mutations in the ABCC6 gene, leading to progressive calcification and fragmentation of elastic fibers, primarily affecting the skin, eyes, and vascular system. Although systemic involvement is recognized, fatal pulmonary complications remain exceptionally rare and poorly characterized in the literature. We present the autopsy findings of an 80-year-old woman with a prolonged clinical history suggestive of PXE, including yellow papules and plaques over flexural surfaces and documented vascular calcifications. Although prior genetic testing was negative for known ABCC6 mutations, the diagnosis was supported postmortem by characteristic histopathologic features. Strikingly, there was diffuse pulmonary calcification and widespread vascular calcifications in the brain, heart, liver, spleen, kidneys, and pancreas.The cause of death was right-sided congestive heart failure due to severe pulmonary hypertension secondary to diffuse alveolar and vascular calcification. Methods/Case Report Case report Results NA Conclusion This case highlights a rare but critical manifestation of PXE and emphasizes the diagnostic value of clinicopathologic correlation when genetic findings are inconclusive, and highlights the often underrecognized potential for PXE to cause fatal cardiopulmonary disease.