Hereditary renal cell carcinoma associated with von Hippel–Lindau disease: a description of a Nova Scotia cohort

Abstract

von Hippel-Lindau (VHL) disease is an autosomal dominant condition characterized by the development of benign and malignant tumours, including cases of renal cell carcinoma (RCC). Early detection of RCC through routine surveillance can lead to decreased morbidity and mortality. Data on the number of patients in Nova Scotia (NS) who have VHL disease, disease manifestations and the frequency and mode of the surveillance have not previously been collected or reported. This project was designed to obtain that information. The number and management of patients with VHL disease was determined by multiple sources: the Maritime Medical Genetics Service, patient charts, and pathology, radiology and laboratory data. The actual surveillance being performed was compared with that recommended in the literature. Twenty-one patients from 11 families in NS were identified. Manifestations included cases of RCC (31.6%), central nervous system (CNS) hemangioblastoma (73.7%), retinal hemangioma (47.4%), renal cyst (47.4%) and pheochromocytoma (10.5%). Of the 6 patients with RCC, 4 had bilateral tumours, 2 required kidney transplants and 1 developed metastatic disease. Routine surveillance was being done for the CNS in 62.5% of patients, retina in 47.4%, abdomen in 43.8% and urine catecholamines in only 10.5%. Only 1 of the 6 patients who developed RCC was undergoing routine abdominal imaging. Surveillance investigations were ordered by a number of different specialists. Patients with VHL disease in NS have a number of manifestations associated with their disease, including RCC, in a similar frequency to that reported in the literature. The surveillance of these patients is suboptimal in frequency and coordination. von Hippel-Lindau disease is a complex condition that requires a coordinated approach to care to ensure proper surveillance and treatment. Our study highlights current deficiencies and offers an enormous opportunity for improvement.