Von Hippel-Lindau syndrome

Angiogram with hemangioblastoma

Von Hippel-Lindau syndrome is an inherited disease of AD in which the VHL gene is mutated (3p 25). The VHL gene product, the VHL protein, binds HIF (hypoxia-inducible factor) factors.

Clinical Picture[edit | edit source]

For more information see Spinal tumors.

It involves the formation of angiofibromas and hemangioblastomas in the retina and cerebellum. Pheochromocytomas and skin fibromas are also common. About 2/3 of those affected have cysts, they appear in the kidneys, pancreas, and epididymis. There is also a markedly increased risk of developing early renal cell carcinoma.

Diagnostics[edit | edit source]

Best MRI with Gadolinium contrast. Finding of hemangioblastoma in the cerebellum as a cyst with a hyperdense tumor nodule. USG of kidney, pancreas. Polyglobulins in ectopic erythropoietin production.

Therapy[edit | edit source]

Therapy is surgical, involving removing tumors and monitoring the patient. Cystic hemangioblastoma in the cerebellum is an indication for urgent surgery. Horseback riding, acute occipital herniation, and death within a few minutes. The cyst must be drained and the tumor nodule extirpated.

Summary video[edit | edit source]

Links[edit | edit source]

Bibliography[edit | edit source]

MUDR SOBOTKA, Roman. Cystická onemocnění ledvin [lecture for subject Urologie, specialization Všeobecní lékařství, 1.LF UK Univerzita Karlova v Praze]. Praha. 2013.