Updated: 8/4/2019

von Hippel-Lindau Disease

Review Topic
  • A 33-year-old man presents to the emergency department after noticing blood in his urine. Medical history is notable for a recently diagnosed left eye retinal hemangioblastoma, for which ophthalmology is following. Family history is notable for his father having some sort of brain and pancreatic cancer. A CT abdomen demonstrates a left-sided renal mass with areas of necrosis and calcifications.
  • Definition
    • a genetic disorder that results in benign and malignant tumors that affect many organs
      • central nervous system
      • kidneys
      • adrenal glands
      • pancreas
      • reproductive organs
  • Epidemiology
    • incidence
      • rare
  • Pathophysiology
    • VHL gene mutation on chromosome 3
      • the VHL protein may act as a tumor suppressor; however, its role in tumorigenesis is not fully clear
      • ubiquitinates hypoxia-inducible factor 1a
  • Symptoms/physical exam
    • dependent on where the tumor arises
      • retinal hemangioblastomas (retinal agioma)
        • visual field defect
        • vision loss
      • central nervous system hemangioblastomas
        • cerebellar
          • gait ataxia and dysmetria
          • vertigo and emesis
        • brainstem
          • dyasphagia
          • gait ataxia
          • hyperreflexia
        • spinal cord
          • weakness
          • gait ataxia
          • hyperreflexia
          • incontinence
      • pancreatic tumors
        • if it compresses the bile duct, can result in jaundice
      • renal cell carcinoma or renal cysts
        • flank pain
        • hematuria
      • pheochromocytoma
        • hypertension
  • MRI brain and spinal cord with and without gadolinium
    • indication
      • to evaluate for central nervous system hemangioblastomas
  • Abdominal CT or MRI
    • indication
      • to evaluate for renal, pancreatic, or adrenal gland lesions
  • VHL molecular genetic testing
    • indication
      • identifies the VHL gene mutation and confirms the diagnosis
  • Isolated malignancies
    • differentiating factors
      • absence of other tumors associated with von Hippel-Lindau disease
  • Multidisciplinary approach to manage benign and malignant tumors
    • e.g., ophthalmology involvement for management of retinal hemagioblastomas
  • Blindness from retinal hemangioblastomas
  • Renal failure in patients with renal lesions
  • Myocardial infarction or stroke in patients with pheochromocytomas
  • Intestinal or biliary compression in pancreatic lesions

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