Introduction: Patients with the familial cancer syndrome von HippelLindau disease (VHL) are enrolled in radiological screening programmes which aim to identify tumour development at an early stage. This facilitates timely intervention to lesions when the risk of metastatic spread is low and when they are conducive to less-invasive and parenchymal-sparing interventions, thereby minimising treatment-related morbidity. A number of international screening protocols exist, although there has been limited evaluation of their outcomes particularly with regard to their yield and cost.
Methods: Retrospective review of the case records of patients with VHL (based on positive genetic analysis or fulfilment of the clinical criteria for diagnosis) cared for at St Bartholomews Hospital, London. An adapted version of the VHL Alliance guidelines were used to guide minimum screening frequency with techniques that minimise ionising radiation exposure being preferentially employed.
Results: Thirty-three patients (20 male, 13 female) were included in the analysis. Median follow up duration was 12.3 years. Across the cohort, the crude rates of interventions per scan were 6.25%, 2.42% and 9.83% for cerebral, spinal and abdominal imaging respectively. This equates to a number needed to scan for one intervention of 16, 41 and 10 in each body area. Using the 2019/20 National Tariff Payment System, the associated imaging costs for each intervention were approximately £2770 for cerebral pathology, £7938 for spinal and £1437 for abdominal. For each body site, surveillance imaging did not result in intervention in 66.7%, 90.9% and 42.4% of patients during the examined follow up period.
Discussion: A significant proportion of scans performed according to international guidelines for radiological screening in VHL do not result in intervention. This raises the question as to whether less intensive surveillance might be possible, particularly for spinal disease, in which indications for intervention are largely based on symptomatology rather than scan appearance.