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

Clin Radiol. 1988 Jul;39(4):363-7. doi: 10.1016/s0009-9260(88)80266-6.

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.

Publication types

  • Review

MeSH terms

  • Adult
  • Angiomatosis / diagnosis*
  • Female
  • Humans
  • Kidney Diseases / diagnosis*
  • Kidney Diseases / etiology
  • Kidney Diseases / genetics
  • Liver Diseases / diagnosis*
  • Liver Diseases / etiology
  • Liver Diseases / genetics
  • Male
  • Pancreatic Diseases / diagnosis*
  • Pancreatic Diseases / etiology
  • Pancreatic Diseases / genetics
  • Tomography, X-Ray Computed
  • Ultrasonography
  • von Hippel-Lindau Disease / complications
  • von Hippel-Lindau Disease / diagnosis*
  • von Hippel-Lindau Disease / genetics