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Sunday, 9 October 2011

von Hippel Lindau disease

- autosomal dominant
- mutation in VHL gene (chromosome 3)
- features
   - cerebellar, brainstem and spinal hemangioblastoma
   - retinal angioma
   - phaeochromocytoma / paraganglioma
   - clear cell renal cell carcinoma (most common cause of death)
- genetic testing (VHL gene analysis) in affected families should take place around 5 years of age
- affected individual requires yearly urinalysis, catecholamine screening, fluorescein angiography and 3 yearly brain MRI screening

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