title: Management of von hippel-lindau disease: an interdisciplinary review.
abstract: Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumour predisposition syndrome with an incidence of 1:36,000 newborns, the estimated prevalence in Europe is about 1-9/100,000. It is associated with an increased risk of developing various benign and malignant tumours, thus affecting multiple organs at different time points in the life of a patient. Disease severity and diversity as well as age at first symptoms vary considerably, and diagnostic delay due to failure of recognition is a relevant issue. The identification of a disease-causing VHL germline mutation subsequently allows family members at risk to undergo predictive genetic testing after genetic counselling. Clinical management of patients and families should optimally be offered as an interdisciplinary approach. Prophylactic screening programs are a cornerstone of care, and have markedly improved median overall survival of affected patients. The aim of this review is to give an overview of the heterogeneous manifestations of the VHL syndrome and to highlight the diagnostic and therapeutic challenges characteristic for this orphan disease. A comprehensive update of the underlying genetic and molecular principles is additionally provided. We also describe how the St. Gallen VHL multidisciplinary group is organised as an example of interdisciplinary cooperation in a tertiary hospital in Switzerland.
authors.affiliation: Division of Haematology and Oncology, Cantonal Hospital St. Gallen, Switzerland.
authors.forename: Sabine
authors.initials: S
authors.lastname: Schmid
authors.forename: Silke
authors.initials: S
authors.lastname: Gillessen
authors.forename: Isabelle
authors.initials: I
authors.lastname: Binet
authors.forename: Michael
authors.initials: M
authors.lastname: Brändle
authors.forename: Daniel
authors.initials: D
authors.lastname: Engeler
authors.forename: Jeannette
authors.initials: J
authors.lastname: Greiner
authors.forename: Claudia
authors.initials: C
authors.lastname: Hader
authors.forename: Karl
authors.initials: K
authors.lastname: Heinimann
authors.forename: Patrik
authors.initials: P
authors.lastname: Kloos
authors.forename: Willy
authors.initials: W
authors.lastname: Krek
authors.forename: Ina
authors.initials: I
authors.lastname: Krull
authors.forename: Sandro J
authors.initials: SJ
authors.lastname: Stoeckli
authors.forename: Michael C
authors.initials: MC
authors.lastname: Sulz
authors.forename: Karin
authors.initials: K
authors.lastname: van Leyen
authors.forename: Johannes
authors.initials: J
authors.lastname: Weber
authors.forename: Christian
authors.initials: C
authors.lastname: Rothermundt
authors.forename: Thomas
authors.initials: T
authors.lastname: Hundsberger
mesh_terms: D006801:Humans; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000628:therapy*