Four general VHL disease phenotypes have been suggested based on the likelihood of the type of tumors that have been presented in patients.  They include;  Type 1, Type 2, Type 2A, Type 2B, and Type 2C.

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There has been some material research that supports the conclusion that phaeochromocytomas appear to be distinct from other VHL lesions.  Therefore, the most relevant correlations rely on the presence or absence of phaeochromocytomas in a patient.  As research continues in this area, we are learning more, please note that patterns are not clear-cut, and correlations have no current diagnostic or therapeutic value and are used for academic purposes at the present time.  Our goal is to support research like this to understand the quality of life and preventative health implications for patients.

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VHL Type 1

Presents with retinal angioma, CNS hemangioblastoma, renal cell carcinoma, pancreatic cysts and neuroendocrine tumors.  This type is characterised by a low risk for phaeochromocytoma.

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VHL Type 2

Presents with phaeochromocytoma, retinal angioma and CNA hemangioblastomas.  This type is characterized by a high risk for phaeochromocytoma.  

 

VHL Type 2 is further subdivided:

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Type 2A - Typically presents with phaeochromocytoma, retinal angioma and CNS hemangioblastomas, low risk for renal cell carcinoma

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Type 2B - Typically presents with phaeochromocytoma, retinal angioma, CNS hemangioblastomas, pancreatic cysts and neuroendocrine tumor with a high risk for renal carcinoma

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Type 2C - Typically risk for phaeochromocytoma only

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