The abdominal manifestation of von Hippel-Lindau disease and a radiological screening protocol for an affected family

Abstract

The mortality in von Hippel-Lindau disease (VHL) is due to the development of central nervous system or abdominal malignancies, particularly renal cell carcinomas. The abdominal manifestations of VHL discovered in the radiological screening of 22 members of an affected family are described. We discuss the problems of making the diagnosis and of detecting small renal and pancreatic tumours against a background of multiple cystic disease. A radiological screening and surveillance protocol using ultrasound and computed tomography is described.