The Epidemiology of von Hippel-Lindau Disease

von Hippel-Lindau disease (VHL) is an autosomal dominant disease with a penetrance of nearly 100% by age 70 years. The prevalence is about one in 39,000 to 85,000 people. VHL is characterized by the development of benign and malignant tumors, including hemangioblastomas of the retina and central nervous system, clear cell renal cell carcinomas and cysts, pheochromocytomas and paragangliomas, pancreatic neuroendocrine tumors and cysts, endolymphatic sac tumors, and epididymal and broad ligament cysts. Herein, we describe the diagnostic criteria, VHL classification, and the disease’s epidemiological spectrum.