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Von Hippel-Lindau disease
What are the symptoms?
The presenting symptoms vary greatly in individual cases. This means that in different generations, or among siblings, affected individuals will not have the same organ affected, for example, one individual may have an affected kidney, whilst in another individual, the eyes are affected. Early childhood onset is infrequent, but can occur and so surveillance should be started in the first few years of life if VHL is suspected due to family history. Most people with VHL develop clinical complications between the ages of 15 to 30 years but, in some cases, no effects are noted until after 50 years of age. Hence, it is important that all individuals at risk are offered screening for subclinical involvement (involvement that is not apparent in general clinical examination). Detailed information and advice on screening and follow-up is available from local genetics centres.
Background
| What are the causes? ![]()