Screening for Von Hippel-Lindau disease: a study of patients offered ad hoc multiple screening appointments compared to those seen at One-Stop screening clinics
Anna Cargill with Lindsay Fraser, Sally Watts, Stephen Sutton, Shirley Hodgson (London)
Von Hippel Lindau disease (VHL) is a rare, dominantly inherited disease with an incidence of 1 in 36,000. Patients with a mutation in the VHL gene are susceptible to the development of a variety of benign or malignant tumours in several organs in the body. Consequently, patients with a diagnosis of VHL and their first-degree family members require careful monitoring of all affected and at risk organs to reduce the complications of the disease – the screening service is therefore of the utmost importance.
This study set out to compare the perceptions of care of VHL families attending a One-Stop clinic to families attending an ad hoc clinic. The One-Stop screening service offers multiple screening modalities at the same appointment, whereas those attending clinics offering ad hoc (AH) screening receive different examinations at different appointments.
A cross-sectional study with 72 participants filled in a questionnaire that measured perceptions of care and psychological distress – the analysis is at the publication preparation phase.