Von Hippel Lindau (VHL) disease is an autosomal dominant disorder which causes retinal hemangioblastomas, hemangioblastomas of the central nervous system, endolymphatic sac tumors, renal cell carcinomas, pancreatic cysts and tumors, pheochromocytomas and epididymal cystadenomas, among other less common manifestations. Although this entity has been recognized for almost 70 years, recent developments in the genetics and imaging of VHL have significantly improved our understanding of the disease and its natural history. The purposes of this review are to describe the major events leading to the discovery of the gene for VHL as well as to familiarize the reader with recent developments in the Magnetic Resonance Imaging, Computed Tomography and Ultrasound findings of this entity. Despite advances in the genetic understanding of this disease, imaging techniques will continue to play a major role in the diagnosis, management and treatment of VHL. Von Hippel Lindau (VHL) Disease is a hereditary condition that predisposes patients to hemangioblastomas in the central nervous system and a variety of visceral tumors. The prevalence of VHL has been estimated to be between 1:35,000-1:40,000 (1,2). Thus, there should be between 6,000 and 7,000 patients with VHL in the United States. Identifying such patients has been problematic as it involved comprehensive screening of all potentially affected family members. In 1993, significant progress toward a noninvasive screening test was made when the gene responsible for VHL was identified by Latif et al (3). Although VHL is a relatively rare disease, an understanding of the genetics and biology of VHL may help elucidate the mechanism of tumorigenesis in more common sporadic malignancies such as renal cell carcinoma, hemangioblastoma and islet cell tumors (4). Herein we review the clinical and genetic features of VHL.
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