Von Hippel-Lindau disease

Von Hippel-Lindau (vHL) disease is characterised by the development of numerous benign and malignant tumours in different organs (at least 40 types 1) due to mutation in VHL tumour suppressor gene on chromosome 3.

The disease is rare with an estimated prevalence of 1:35,000-50,000.

Clinical presentation is varied, depending on the site of disease manifestation (see below). Most commonly these are either within the abdominal cavity or central nervous system. 

Distribution

Patients may develop some or all of the various lesions which include:

Abdominopelvic
CNS
Head and neck
Mnemonic

Features can be remembered by the neumonic HIPPEL:

  • Haemangioblastoma
  • Increased risk of RCC
  • Phaeochromocytoma
  • Pancreatic lesions (cysts, cystadenomas, cystadenocarcinomas)
  • Eye dysfunction (retinal haemangioblastomas)
  • Liver, renal and pancreatic cysts
Genetics

The disease carries an autosomal dominant inheritance with high expression and variable penetrance. It classically results from an inactivation of a tumour suppressor gene located on chromosome 3p25.5. However, no mutation has been identified in up to 30% of cases.

Please refer to articles on individual lesions for specific imaging characteristics.

Most lesions with vHL are treatable and screening is recommended. Some experts advocate routine screening starting in adolescence. Prognosis is poor, with an median survival of ~50 years, with the most common cause of death being RCC and cerebellar haemangioblastomas 1

Eugen von Hippel (1867-1939) was a German ophthalmologist that had described a rare disorder of the retina in 1904 and seven years later reported the basis of this disease, named as "angiomatosis of the retina". 

Arvid Vilhelm Lindau (1892-1958) was a Swedish pathologist and bacteriologist that described the association between angiomatosis of the retina with hemangioblastomas of the cerebellum and other CNS parts and other visceral components of a disease so called as "angiomatosis of the central nervous system".

In 1964 the disease was renamed to “Von Hippel-Lindau disease”.


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Article Information

rID: 9186
Section: Syndromes
Tag: h
Synonyms or Alternate Spellings:
  • von Hippel Lindau disease (vHL)
  • vHL
  • von Hippel-Lindau syndrome
  • von Hippel Lindau syndrome (vHL)
  • von Hippel-Lindau disease
  • Retinocerebellar angiomatosis

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    Case 1: with cerebellar haemangioblastoma
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    Case 2: with spinal haemangioblastoma
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    Case 3: pancreatic cysts : T2 fat sat
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    Case 4
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    Case 6
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    Case 7
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    Case 8: pancreatic cysts in vHL
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    Case 9: with pancreatic cysts
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    Case 10
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