Von Hippel-Lindau disease
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(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