The epidemiology of von Hippel-Lindau disease
Publication date
2024-04-06
Authors
van Leeuwaarde, Rachel S
Halperin, Reut
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Document Type
Part of book
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taverne
Abstract
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.
Keywords
Epidemiology, Hemangioblastoma, Morbidity, Mortality, Pancreatic neuroendocrine tumor, Pheochromocytoma, Prevalence, Renal cell carcinoma, von Hippel-Lindau, Taverne, General Medicine
Citation
van Leeuwaarde, R S & Halperin, R 2024, The epidemiology of von Hippel-Lindau disease. in Von Hippel-Lindau Disease : A Comprehensive Guide to Diagnosis, Treatment, and Management. Springer, pp. 27-41. https://doi.org/10.1007/978-3-031-53858-2_2