Clinical management of Von Hippel-Lindau (VHL) disease

Von Hippel-Lindau (VHL) disease is an autosomal. dominant inherited tumour syndrome with an estimated prevalence of 2-3 per 100,000 persons. A germlim e mutation in the VHL gene predisposes carriers to tumours in multiple orga ns. These tumours may include haemangioblastoma in the retina and central n ervous system (CNS), renal cell carcinoma, phaeochromocytoma, islet cell tu mours of the pancreas, and endolymphatic sac tumours, as well as cysts and cystadenoma in the kidney, pancreas, epididymis and broad ligament. Penetra nce of VHL disease is high, most carriers of a VHL germline mutation develo p one or more tumours by the age of 60 years. The most common symptoms incl ude: loss of vision, raised intracranial pressure, neurological deficits, p aroxysmal raised blood pressure and local pain. At present, metastases from renal cell carcinoma and neurological complications from cerebellar haeman gioblastoma are the most common causes of death. However, it is anticipated that intensive radiological and clinical monitoring, and advanced operatio n techniques will reduce both morbidity and mortality in patients with VHL disease. (C) 2001 Elsevier Science B.V. All rights reserved.