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 mutations in the 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. 

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

Features can be remembered by the mnemonic HIPPEL:

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

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

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

Most lesions from vHL are treatable and screening is recommended. Some experts advocate routine screening starting in adolescence. Prognosis is poor, with a 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 who 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 who described the association between angiomatosis of the retina and haemangioblastomas of the cerebellum and other parts of the CNS and other visceral components of a disease, calling it "angiomatosis of the central nervous system".

In 1964 the disease was renamed 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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Cases and figures

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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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