Online first
Review paper
Published online: 2024-12-04
Von Hippel-Lindau syndrome from the urologist and oncologist perspective — literature review
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Abstract
Von Hippel-Lindau (VHL) syndrome is a rare genetic disorder characterized by multiple retinal and cerebellar hemangioblastomas that tend to occur in a familial setting. The pattern of inheritance is autosomal dominant. Patients with VHL syndrome have an increased risk of clear cell renal cell carcinoma (ccRCC) as well as pancreatic and testicular cysts and cystadenomas. Tumors associated with VHL syndrome manifest at a young age. This article presents diagnostic methods and discusses the treatment approaches for this syndrome based on a global literature review.
Keywords: von Hippel-Lindau syndromefamiliar angiomatosis of the retina and cerebellumclear cell renal cell carcinomapolycystic kidney disease
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