Von Hippel Lindau Disease

In von Hippel-Lindau disease, an autosomal dominant disorder, bilateral renal cell carcinomas are common and haemangioblastomas, phaeochromocytomas and renal cysts are also found.

Polymorphic probes from chromosome 3p, the region implicated in renal cell carcinoma, have demonstrated genetic linkage between them and von Hippel-Lindau disease.

It seems likely, therefore, that mutation of the same tumour suppressor gene may be responsible for both renal cell carcinoma and von Hippel-Lindau disease. Deletion of the short arm of chromosome 3 is the most consistent cytogenetic finding in sporadic tumours.

The symptoms and signs of Von Hippel Lindau Disease are Cerebelloretinal hemangioblastomatosis and Angiophakomatosis retinae et cerebelli, Hippel Disease, Hippel-Lindau Syndrome, Retinocerebellar Angiomatosis. The symptoms of von Hippel-Lindau Disease vary greatly and depend on the size and location of the growths.

Both males and females of all ethnic backgrounds are affected by von Hippel-Lindau disease. It is estimated to occur in 1 individual per 36,000 people. The average age at diagnosis is 26 years.