MedPix Video - Phakomatoses: von Hippel-Lindau Syndrome

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07/02/23

von Hippel-Lindau Syndrome:
1 per 36,000 live births
No racial/gender predilection
Autosomal Dominant Chromosome 3 mutation
3p26-p25
Missense/Truncation disrupt folding of VHL protein
Almost all with “pathogenic mutation” have Sx by 65 yrs
VHL mutation alters ubiquitin ligase that normally degrades hypoxia-inducible factors HIF-1α and HIF-2α, altered protein causes elevated levels of HIF

Manifestations:
Hemangioblastomas ~100%
~80% are in the brain
~70% of pts have retinal “angioma”
~20% are in the spinal cord
Variable growth patterns
~20% single HBL occur in VHL pts
Endolymphatic Sac Tumors 10-16%
Renal cysts – multiple & bilateral
Renal Cell Carcinoma ~70% of pts over 60 yo
Pheochromocytoma (VHL Type 2)
Pancreatic Cysts
Pancreatic neuroendocrine tumors5-17%
Epididymal & Broad Ligament cystadenoma