Von-Hippel-Lindau (VHL) Flashcards
1
Q
what is it?
A
characterised by retinal hemangioblastoma
clear cell renal carcinoma is a big concern
oxygen sensing is the pathway disrupted
2
Q
who gets it?
A
some genotype-phenotype correlation the type of mutation will predict the presentation of disease
autosomal dominant
autosomal dominant
mutation in the VHL gene
3
Q
pathogenesis
A
gene mutation leads to HIF protein accumulation and stimulation of cellular proliferation
causes a range of vascular tumours
4
Q
how is it managed?
A
should be very closely surveyed - family screening is essential
