Von Hippel-Lindau disease


Von Hippel-Lindau (VHL) disease is a rare genetic disorder in which tumours and cysts occur in a variety of organs. Most frequently these are the cerebellum (hind part of the brain), the spinal cord, the kidneys, the pancreas (a gland situated below the stomach) and the retina (a light-sensitive film at the back of the eye). Angiomas (enlarged blood vessels) can occur on the retina, while haemangioblastomas (benign (non-cancerous) cystic or solid tumours) may occur in the cerebellum or spinal cord. Kidney tumours and cysts are common and early detection of kidney tumours is important as these can become cancerous. Phaeochromocytomas, tumours of the inner part of the adrenal gland, occur in about ten per cent of patients, pancreatic tumours in up to ten per cent and endolymphatic sac tumours (part of the inner ear) causing deafness occur in up to five per cent of patients. Cysts in the pancreas and (in males) the epididymis (a narrow, tightly-coiled tube behind the testicle) are common, but rarely cause clinical problems.


Last reviewed March 2014 by Professor ER Maher, Professor of Medical Genetics, Centre for Rare Diseases and Personalised Medicine, University of Birmingham Medical School, Birmingham, UK.

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 patterns
Autosomal dominant, new mutations may also occur.

Prenatal diagnosis
Not 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 Ireland
Email: uk@vhl.org
Website: vhl.org/uk

Phone: +00 353(0) 402 37232 (Ireland – Gloria Proby)
Email: riverfieldfarmhouse@eircom.net

Group details last updated October 2015.

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