Von Hippel Lindau is a rare (1:35000) autosomal dominant genetic condition with increased formation of specific vascular tumours (mostly benign) called hemangioblastomas, mostly in eye retina and cerebellum as well as increased risk for renal clear cell carcinomas at young age and sometimes adrenal pheochromocytomas. Multiple pancreatic and renal cysts are common.
The critical management step is an early recognition of VHL with the help of genetic testing what allows presymptomatic identification of persons at risk and target them towards specific surveillance and prompt treatment.
Molecular testing is quite easy – VHL gene has only 3 exons which can be easily sequenced for small mutations. But there is a trick: up to 30-40 percent of mutations are large deletions of entire gene or particular exons, therefore other techniques must be used, like MLPA or real-time PCR. Altogether nearly 100% sensitivity can be reached.
Each case of hemangioblastoma, renal clear cell carcinoma (RCC) or pheochromocytoma before the age of 50, bilateral or multifocal involvement should prompt to genetic testing.
There are lot of efforts for developing targeted cure for VHL – anti-VEGF therapy is one experimental choice. Hopefully other strategies (like modulation of HSPC300 gene activity) will bring some hope for a cure.
On monday I’m organising VHL seminar for doctors at our hospital as well as bringing VHL patients together.