Manifestations of Von Hippel Lindau syndrome: a retrospective national review.

INTRODUCTION: Von Hippel Lindau (VHL) disease is a syndrome that is defined by variety of tumours such as cerebellar haemangioblastomas, renal cell carcinomas, phaeochromocytomas, pancreatic adenomas and ear, nose and throat (ENT) adenomas. This disease is often genetic and inherited in an autosomal dominant fashion, and can present in childhood, adolescence or adult life. This study describes the presentation, natural history and manifestations of patients attending our institutions with this condition. We aim to highlight the importance of screening in diagnosing the manifestations of VHL.
METHODS: A retrospective review was performed on all patients diagnosed with VHL and coded as such by the national Hospital Inpatient Enquiry Scheme at Beaumont Hospital Dublin and Cork University Hospital. This was performed over a 20 years period between 1989 and 2009. Age, sex, mode of presentation, presence or absence of end stage kidney disease and genotype were documented. Presence or absence of the characteristic tumours of VHL was also recorded, as were the initial presenting features of these tumours.
RESULTS: Thirty-six patients were diagnosed with VHL. These patients ranged from 18 to 78 years old. Three patients were members of the Irish travelling community. The most frequent mode of presentation was altered neurological signs (40%), with a significant proportion presenting with haematuria (23%). Patients diagnosed prior to 1995 were more likely to have presented with significant complications of VHL, while those diagnosed after this time were more likely to have been diagnosed via screening. Genetic testing was performed on 17 patients; those who did not have genetic testing performed were more likely to have been diagnosed prior to the era of genetic testing. Thirty-one patients had received screening for complications of VHL including renal cell carcinomas, central nervous system (CNS) haemangioblastomas and phaeochromocytomas. The patients who did not receive any screening presented with neurological symptoms.
CONCLUSION: Beaumont Hospital Dublin and Cork University Hospital are tertiary referral centres for nephrology, urology and neurosurgery and deals with a significant proportion of patients diagnosed with VHL in Ireland. This study highlights the significant burden of this illness and emphasizes the importance of screening for these renal/CNS and ENT complications. This study also highlights the importance of family screening in diagnosing this condition.