screening for MEN-II and von Hippel-Lindau syndrome

Last reviewed 01/2018

Every patient with a phaeochromocytoma should be screened for both MEN-II and von Hippel-Lindau syndrome (VHS).

Screening is important because:

  • up to a quarter of patients will have either von Hippel Lindau or MEN type 2
  • it allows identification of life-threatening problems:
    • VHS - haemangioma of the brain and renal cancer
    • MEN-II - medullary carcinoma of the thyroid
  • of associated morbidity e.g. retinal angiomas can cause loss of vision in VHS
  • it allows subsequent screening of first-degree relatives

Screening should entail:

  • pentagastrium test - measure of calcitonin
  • measurement of serum parathyroid hormone
  • ophthalmoscopy - retinal angiomas
  • MRI of the brain - haemangioblastomas
  • CT of the kidneys and pancreas - retinal cysts and pancreatic cysts
  • ultrasonography of the testes - epididymal cystadenoma