This disease is caused by a mutation in the VHL gene on chromosome 3.
Hemangioblastoma is a benign vascular tumor that occurs most commonly in the CNS and retina.
Von Hippel-Lindau disease is characterized by multiple hemangioblastomas that are classically found in the medulla, retina, and cerebellum. Involvement of these structures can result in headaches, ataxia, weakness, and vision problems.
A cyst is a enclosed sac that has a distinct membrane and is separated from the nearby tissue. Von Hippel-Lindau disease often causes multiple cysts throughout the body.
Von Hippel-Lindau disease often causes multiple cysts throughout the body including the kidney, liver, and pancreas.
Patients with von Hippel-Lindau disease are at an increased risk of developing bilateral renal cell carcinomas. The classic triad of symptoms is hematuria, flank pain, and an abdominal mass, although this occurs in 10-15% of cases.
Patients with von Hippel-Lindau disease are at increased risk of developing pheochromocytomas. This is a neuroendocrine tumor of the chromaffin cells, which secrete catecholamines. This tumor is of neural crest cell origin and is often found in the adrenal medulla. It often presents with the classic triad of intermittent palpitations, headache and diaphoresis.
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