Tijdschrift voor geneeskunde
Author:
Keywords:
Von Hippel-Lindau, predictieve test, presymptomatische diagnostiek
Abstract:
The von Hippel-Lindau Syndrome has already been known for a few decades as a medical entity and possible since 1993 it is to detect the gene defect causing the syndrome. Thus a presymptomatic diagnosis is frequently possible in family members of known patients. An interdisciplinary approach improves the diagnostic frequency, can focus on the screening and optimises the medical follow-up and treatment: consequently both the morbidity and mortality of this syndrome may be diminished. Diagnostic criteria and possibilities of predictive DNA-testing are described. A practical scheme for screening and follow-up is also presented.