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- W4367304197 abstract "<h3>Objective:</h3> We aim to highlight the importance of the VHL clinic at the University of Florida in diagnosing, screening, and providing comprehensive care for VHL patients and families affected <h3>Background:</h3> VHL disease is a syndrome that is defined by a variety of tumors such as cerebellar hemangioblastomas, renal cell carcinomas, phaeochromocytomas, pancreatic adenomas and ear, nose, and throat (ENT) adenomas. This disease is genetic and inherited in an autosomal dominant fashion, and can present in childhood, adolescence, or adult life. This study describes the presentation, natural history, and manifestations of patients attending our institutions with this condition. <h3>Design/Methods:</h3> A retrospective review was performed on all patients referred to the VHL clinic with possible VHL. This was performed over a 7-year period between 2016 and 2021. Age, sex, mode of presentation, presence or absence of end-stage kidney disease, and genotype were documented. The presence or absence of the characteristic tumors of VHL was also recorded, as were the initial presenting features of these tumors. <h3>Results:</h3> Forty-three patients were referred to the VHL clinic. These patients ranged from 18 to 68 years old. The most frequent mode of presentation was neurological signs with genetic diagnosis in 15 patients (34%), cerebellar hemangioblastoma (11%), spinal hemangioblastoma (11%), renal cell carcinoma ( 4%), pheochromocytoma ( 2%), retinal changes (3%) and auditory cyst ( 2%) <h3>Conclusions:</h3> The University of Florida Health is a referral center for nephrology, urology, and neurosurgery and deals with a significant proportion of patients diagnosed with VHL in Florida. This study highlights the significant burden of this illness and emphasizes the importance of screening for these renal/CNS and ENT complications. This study also highlights the importance of family screening in diagnosing this condition. As well as the importance of designated VHL clinics in taking care of individuals and families affected by VHL. <b>Disclosure:</b> Dr. Shuhaiber has nothing to disclose." @default.
- W4367304197 created "2023-04-29" @default.
- W4367304197 creator A5011632648 @default.
- W4367304197 date "2023-04-25" @default.
- W4367304197 modified "2023-09-26" @default.
- W4367304197 title "Manifestations of Von Hippel Lindau syndrome: a retrospective single-institution review (P8-13.002)" @default.
- W4367304197 doi "https://doi.org/10.1212/wnl.0000000000202527" @default.
- W4367304197 hasPublicationYear "2023" @default.
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