Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.

ABSTRACT:

Background

Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis and surveillance. However, there is limited information on the "real world" management of VHL disease.

Methods

A national audit of VHL disease in the United Kingdom.

Results

VHL disease was managed mostly via specialist clinics coordinated through regional clinical genetics services (but frequently involving additional specialties). Over the study period, 19 genetic centres saw 842 individuals (393 males, 449 females) with a clinical and/or molecular diagnosis of VHL disease and 74 individuals (35 male, 39 female) with a prior risk of 50% (affected parent). All centres offered retinal, central nervous system and abdominal surve

SUBMITTER: Maher ER 

PROVIDER: S-EPMC8857742 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature