Aortocaval Paraganglioma in Von Hippel-Lindau Disease

This document discusses a case of a 34-year-old female with Von Hippel-Lindau (VHL) disease who presented with an aortocaval paraganglioma, a type of catecholamine-secreting tumor. The patient had poorly controlled hypertension and was found to have a 6 cm retroperitoneal mass. After successful surgical removal and genetic testing, a VHL missense variant was identified, confirming the diagnosis. The study highlights that VHL-associated paragangliomas typically secrete noradrenaline and present at a younger age than sporadic cases. These tumors have a low metastatic risk and require lifelong surveillance due to the high mutation penetrance of VHL disease. Family screening revealed five other individuals with the same mutation, emphasizing the importance of early genetic and clinical monitoring.