What are the symptoms? The 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. It is therefore 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. What are the causes? The gene responsible for VHL is on chromosome 3 and was identified in 1993. How is it diagnosed? Pre-symptomatic diagnosis is available to most families by direct gene sequencing, and other relatives can be tested once a mutation is found in a family. How is it treated? Treatment is dependent upon the type and severity of symptoms, but may involve surgery, regular screenings, and preventative measures. Inheritance patterns and prenatal diagnosis Inheritance patternsAutosomal dominant, new mutations may also occur. Prenatal diagnosisNot usually requested but possible in many cases by DNA testing. Is there support? VHL Family Alliance (VHLFA) Hosted by the VHL Family Alliance (VHLFA) based in the USA, this group offers support for VHL, hereditary leiomyomatosis and renal cell cancer (HLRCC) and Birt-Hogg-Dubé (BHD) syndrome. Help and support via telephone, email, and internet is available to people throughout the United Kingdom and Ireland. Please use one of the following methods to contact the group: Phone: 0808 189 0891 freephone in England, Scotland, Wales, and Northern IrelandEmail: email@example.comWebsite: vhl.org/uk Phone: +00 353(0) 402 37232 (Ireland – Gloria Proby)Email: firstname.lastname@example.org Group details last updated October 2015.