Von Hippel-Lindau

Von Hippel-Lindau (VHL) disease is an autosomal dominant condition which predisposes to malignant and benign neoplasms. It is caused by mutations/deletions in a tumour suppressor gene on chromosome 3. 

The most common neoplasms in Von Hippel-Lindau are: 

• Retinal haemangioblastoma 
• Cerebellar haemangioblastoma 
• Spinal cord haemangioblastoma 
• Renal cell carcinoma 
• Pheochromocytoma 
• Pancreatic 

VHL disease may be subdivided into: 

• Type 1 VHL – no pheochromocytoma 
• Type 2 VHL – with phaeochromocytoma 

Possible clinical manifestations of of VHL include: 

• retinal detachment 
• visual loss 
• cerebellar signs – ataxia, nystagmus
• headache 
• vomiting 
• subarachnoid haemorrhage - due to cerebellar lesions 

Life expectancy of patients with VHL is <50 yrs.

References: 

Friedrich, C. Genotype-phenotype correlation in von Hippel-Lindau syndrome. Hum Mol Genet. 2001; 10(7):763-767. 

OMIM: Von Hippel-Lindau. Available at http://omim.org/entry/193300?search=von%20hippel%20lindau&highlight=hippel%20von%20lindau