Updated: 12/26/2021

von Hippel-Lindau Disease

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  • Snapshot
    • 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.
  • Introduction
    • 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
  • etiology
    • 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
  • Presentation
    • 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
  • Imaging
    • 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
  • Studies
    • VHL molecular genetic testing
      • indication
        • identifies the VHL gene mutation and confirms the diagnosis
  • Differential
    • Isolated malignancies
      • differentiating factors
        • absence of other tumors associated with von Hippel-Lindau disease
  • Treatment
    • Multidisciplinary approach to manage benign and malignant tumors
      • e.g., ophthalmology involvement for management of retinal hemagioblastomas
  • Complications
    • 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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