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Clinical diagnosis of von Hippel-Lindau (VHL)

The clinical diagnosis of von Hippel-Lindau (VHL) disease is established in [Lonser et al 2003Butman et al 2008Maher et al 2011]:

A simplex case (i.e., an individual with no known family history of VHL disease) presenting with two or more characteristic lesions:

  • two or more haemangioblastoma​s of the retina, spine or brain or a single haemangioblastoma​ in association with a visceral manifestation (e.g. multiple kidney or pancreatic cysts)
  • renal cell carcinoma
  • adrenal or extra-adrenal phaeochromocytomas​
  • less commonly, endolymphatic sac tumors (ELST), papillary cystadenomas of the epididymis or broad ligament, or neuroendocrine tumours of the pancreas.

An individual with a positive family history of VHL disease in whom one or more of the following disease manifestations is present:

  • retinal, spinal or cerebellar haemangioblastoma
  • adrenal or extra-adrenal phaeochromocytoma
  • renal cell carcinoma
  • multiple renal and pancreatic cysts

Note: other lesions characteristic of VHL are ELST and pancreatic neuroendocrine tumours; however these are not typically used to make a clinical diagnosis of VHL.

Retinal haemangioblastomas are commonly referred to as retinal angiomas.

Gene Reviews accessed 23/05/2018.

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14 Oct 2019