von Hippel-Lindau disease: Diagnosis and factors influencing disease outcome.

von Hippel-Lindau disease: Diagnosis and factors influencing disease outcome. Dan Med J. 2018 Mar;65(3): Authors: Binderup MLM Abstract von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition caused by mutations in the VHL tumor suppressor gene. VHL mutation-carriers are at life-long risk of multi-organ tumor development. The mainstay of vHL management is close surveillance and surgical tumor removal. The disease has been reported to be fully penetrant at 60 years of age, and has a highly variable phenotype, which complicates vHL management and causes distress and uncertainty for affected families. vHL survival has historically been poorer than the survival of the general population, with a median life expectancy for vHL patients of only 49 years. vHL life expectancy is expected to be improved by better surveillance, tumor diagnosis, and treatment approaches, although this has not
yet been directly demonstrated. The prevalence of vHL is between 1 in 39,000 and 1 in 91,000 individuals, and the birth incidence is between 1 in 36,000 and 1 in 45,500 live births in different populations. Based on these estimates, vHL is underdiagnosed in Denmark, and many undiagnosed families are not offered genetic counseling or prophylactic surveillance.
We aimed to assess 1) how the rate of new manifestation development is influenced by age, sex, genotype, tumor location, and pregnancy, 2) how vHL survival has developed over time, and...
Source: Danish Medical Journal - Category: General Medicine Tags: Dan Med J Source Type: research