Von Hippel-Lindau disease

[MIM 193 300]

(familial cerebello-retinal angiomatosis)

Prevalence: 1/53,000 and annual incidence 1/36,000. Autosomal dominant transmission of mutations of the VHL gene (tumor suppressor gene) on 3p25.3 producing a familial predisposition to develop cancer.

Association or successive appearance of:

-        retinal angiomas: multiple and bilateral in 50% of cases, they may be asymptomatic or result in glaucoma, retinal detachment, etc

-        hemangioblastomas of the cerebellum (60-80%) and the spine (sometimes syringomyelia):  benign tumors but that compress the adjacent tissues

-        renal cell carcinoma,

-        cystic lesions of the kidney with significant risk of clear cell carcinoma

-        cystic lesions of the pancreas, the epididymis

-        sometimes neck paragangliomas

-        risk of extra-adrenal or adrenal pheochromocytoma.

There are 4 different phenotypes depending on the type of mutation of the VHL gene:

-        type 1: retinal angiomas, hemangioblastomas of the CNS, renal cell carcinoma, pancreatic cysts, neuroendocrine tumors, low risk of pheochromocytoma

-        type 2A: high risk of pheochromocytoma, retinal angiomas, hemangioblastomas of the SNC, low risk of renal cell carcinoma

-        type 2B: high risk of pheochromocytoma, retinal angiomas, CNS hemangioblastomas, high risk of renal cell carcinoma

-        type 2C: high risk of pheochromocytoma


Anesthetic implications:

according to the lesions and their location. Think "pheochromocytoma" in case of hypertension or hemodynamic overreaction.


References : 

-          Maher ER, Neumann HPH, Richard S. 
von Hippel-Lindau disease: a clinical and scientific review. 
Eur J Human Gen 2011; 19: 617-23.

-        Lam H, Nguyen T, Austin T. 
Recurrent cardiomyopathy from recurrent pheochromocytoma in a pediatric patient. 
Pediatr Anesth 2014; 24: 88-9.


Updated: September 2018