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.
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