TY - JOUR
T1 - von Hippel-Lindau disease
T2 - Updated guideline for diagnosis and surveillance
AU - Louise M Binderup, Marie
AU - Smerdel, Maja
AU - Borgwadt, Line
AU - Beck Nielsen, Signe Sparre
AU - Madsen, Mia Gebauer
AU - Møller, Hans Ulrik
AU - Kiilgaard, Jens Folke
AU - Friis-Hansen, Lennart
AU - Harbud, Vibeke
AU - Cortnum, Søren
AU - Owen, Hanne
AU - Gimsing, Steen
AU - Friis Juhl, Henning Anker
AU - Munthe, Sune
AU - Geilswijk, Marianne
AU - Rasmussen, Åse Krogh
AU - Møldrup, Ulla
AU - Graumann, Ole
AU - Donskov, Frede
AU - Grønbæk, Henning
AU - Stausbøl-Grøn, Brian
AU - Schaffalitzky de Muckadell, Ove
AU - Knigge, Ulrich
AU - Dam, Gitte
AU - Wadt, Karin AW.
AU - Bøgeskov, Lars
AU - Bagi, Per
AU - Lund, Lars
AU - Stochholm, Kirstine
AU - Ousager, Lilian Bomme
AU - Sunde, Lone
N1 - Copyright © 2022 The Authors. Published by Elsevier Masson SAS.. All rights reserved.
PY - 2022/8
Y1 - 2022/8
N2 - von Hippel Lindau disease (vHL) is caused by a hereditary predisposition to multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell carcinomas (RCC), pheochromocytomas, neuroendocrine pancreatic tumours (PNET) and endolymphatic sac tumours. Evidence based approaches are needed to ensure an optimal clinical care, while minimizing the burden for the patients and their families. This guideline is based on evidence from the international vHL literature and extensive research of geno- and phenotypic characteristics, disease progression and surveillance effect in the national Danish vHL cohort. We included the views and preferences of the Danish vHL patients, ensured consensus among Danish experts and compared with international recommendations. RECOMMENDATIONS: vHL can be diagnosed on clinical criteria, only; however, in most cases the diagnosis can be supported by identification of a pathogenic or likely pathogenic variant in VHL. Surveillance should be initiated in childhood in persons with, or at risk of, vHL, and include regular examination of the retina, CNS, inner ear, kidneys, neuroendocrine glands, and pancreas. Treatment of vHL manifestations should be planned to optimize the chance of cure, without unnecessary sequelae. Most manifestations are currently treated by surgery. However, belzutifan, that targets HIF-2α was recently approved by the U.S. Food and Drug Administration (FDA) for adult patients with vHL-associated RCC, CNS hemangioblastomas, or PNETs, not requiring immediate surgery. Diagnostics, surveillance, and treatment of vHL can be undertaken successfully by experts collaborating in multidisciplinary teams. Systematic registration, collaboration with patient organisations, and research are fundamental for the continuous improvement of clinical care and optimization of outcome with minimal patient inconvenience.
AB - von Hippel Lindau disease (vHL) is caused by a hereditary predisposition to multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell carcinomas (RCC), pheochromocytomas, neuroendocrine pancreatic tumours (PNET) and endolymphatic sac tumours. Evidence based approaches are needed to ensure an optimal clinical care, while minimizing the burden for the patients and their families. This guideline is based on evidence from the international vHL literature and extensive research of geno- and phenotypic characteristics, disease progression and surveillance effect in the national Danish vHL cohort. We included the views and preferences of the Danish vHL patients, ensured consensus among Danish experts and compared with international recommendations. RECOMMENDATIONS: vHL can be diagnosed on clinical criteria, only; however, in most cases the diagnosis can be supported by identification of a pathogenic or likely pathogenic variant in VHL. Surveillance should be initiated in childhood in persons with, or at risk of, vHL, and include regular examination of the retina, CNS, inner ear, kidneys, neuroendocrine glands, and pancreas. Treatment of vHL manifestations should be planned to optimize the chance of cure, without unnecessary sequelae. Most manifestations are currently treated by surgery. However, belzutifan, that targets HIF-2α was recently approved by the U.S. Food and Drug Administration (FDA) for adult patients with vHL-associated RCC, CNS hemangioblastomas, or PNETs, not requiring immediate surgery. Diagnostics, surveillance, and treatment of vHL can be undertaken successfully by experts collaborating in multidisciplinary teams. Systematic registration, collaboration with patient organisations, and research are fundamental for the continuous improvement of clinical care and optimization of outcome with minimal patient inconvenience.
KW - Guideline
KW - Hemangioblastoma
KW - Pheochromocytoma
KW - Renal cell carcinoma
KW - Surveillance
KW - von Hippel-Lindau disease
KW - Genetic Predisposition to Disease
KW - von Hippel-Lindau Disease/diagnosis
KW - Humans
KW - Kidney Neoplasms/complications
KW - Hemangioblastoma/diagnosis
KW - Adult
KW - Carcinoma, Renal Cell
U2 - 10.1016/j.ejmg.2022.104538
DO - 10.1016/j.ejmg.2022.104538
M3 - Journal article
C2 - 35709961
SN - 1769-7212
VL - 65
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 8
M1 - 104538
ER -