von Hippel Lindau disease

The von Hippel lindau (vHL) disease is a multi-system disorder characterised by the development of numerous benign and malignant tumours (at least 40 types¹), as well as several non-malignant lesions. 

Patients may develop some of all of the various lesions which include

• phaeochromocytoma(s)
• CNS haemangioblatoma(s)
  • cerebellar : ~ 75 %
  • spinal : ~ 25 %
• retinal haemangioblastoma(s)
• choroid plexus papilloma (CPP)
• endolymphatic sac tumours (ELST)
• numerous pancreatic lesions (may be the earliest manifestion ³) 
  • pancreatic cysts
  • pancreatic islet cell tumours
  • microcystic adenoma(s) of pancreas
  • pancreatic adenocarcinoma : rare
• renal lesions
  • renal cell carcinoma(s) : usually of the clear cell type ⁷; can occur in up to 40% of cases and is one of the most feared complications ; RCC's present at an earlier age in those with vHL
  • renal cysts : can occur in up to 75% of cases ⁵ ; often tend to be bilateral and multiple
  • renal angiomyolipoma(s)
• liver cysts
• papillary cystadenoma(s) of the epididymis

Epidemiology

The disease is rare with an estimated prevalance of 1 : 35000 - 50000.

Genetics

The disease carries an autosomal dominant inheritance with high expression and variable penetrance. Classically results from an inactivation of a tumour suppression gene located on chromosome 3p25.5. However no mutation identified in up to 30% of cases.

Radiographic features

Please refer to articles on individual lesions on specific imaging characteristics

Treatment and prognosis

Most lesions with vHL are treatable and screening is recommended (some advocate routine screening starting in adolescence.