Updated: 4/14/2019

Von Hippel-Lindau Disease

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Snapshot
  • A 27-year-old male presents with an unprovoked convulsive episode. Medical history is noncontributory. Family history is significant for clear cell renal cell carcinoma in his father, resulting in death. The exact cause of his paternal grandfather’s death is unclear, but is thought to be due to a “bleed in the brain.” Head CT is performed.
Introduction
  • Autosomal dominant syndrome secondary to VHL gene mutation on chromosome 3  
    • VHL gene product is a tumor suppressor gene
      • down regulates a transcription factor (HIF-1) involved in the expression of VEG-F and erythropoietin
    • leads to the development of: 
      • hemangioblastomas of the CNS
        • most commonly in the cerebellum and retina
      • cysts in various organs (e.g., kidney, pancreas, liver)
Presentation
  • Associated with:
    • hemanioblastomas (most common)
    • clear cell renal cell carcinoma
    • retinal capillary hemangioblastoma
    • pheochromocytomas
    • endolymphatic sac tumors
    • pancreatic tumors
Evaluation
  • Genetic testing
    • usually on lymphocytes of the peripheral blood
  • Imaging techniques used to identify associated diseases
    • e.g., MRI/CT of the head, abdominal CT/MRI, and ophthalmic ultrasonography
Differential
  • Multiple endocrine neoplasia, type 2 (MEN 2)
  • Pheochromocytoma
  • Autosomal dominant polycystic kidney disease
Treatment
  • Medical management
    • surveillance
      • e.g., ophthalmologic exams for retinal hemangioblastomas
  • Surgical management
    • e.g., argon laser photocoagulation, partial nephrectomy, and neurosurgical excision in non-stable lesions
Prognosis, Prevention, and Complications
  • Complications
    • includes renal cell carcinoma and hemangioblastoma

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Questions (3)
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(M1.NE.15.4671) A 35-year-old man presents to his primary care physician complaining of blood in his urine. He has also has had changes in his vision over the last several months. He reports a family history of renal cancer. The patient undergoes an abdominal CT, which shows lesions suspicious for renal cell carcinoma on both kidneys. MRI of the brain shows the findings in Figure A. Fundoscopic examination reveals the finding shown in Figure B. Which of the following genetic defects does this patient most likely have?

QID: 107126
FIGURES:
1

Mutation on chromosome 3

60%

(57/95)

2

Mutation on chromosome 22

9%

(9/95)

3

Mutation on chromosome 17

16%

(15/95)

4

Increased trinucleotide repeats

4%

(4/95)

5

Mutation on chromosome 16

7%

(7/95)

M 1 E

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(M1.NE.14.27) A 21-year-old female presents to the family physician with 3 weeks of headaches, sweating, and palpitations. Her BP was 160/125 mmHg, and a 24-hour urine test revealed elevated vanillylmandelic acid (VMA) and normetanephrine. Past medical history is notable for bilateral retinal hemangioblastomas, and family history is significant for three generations (patient, mother, and maternal grandfather) with similar symptoms. Genetic analysis revealed a mutation of a gene on chromosome 3p. Which of the following is the patient at risk of developing?

QID: 107028
1

Clear cell renal cell carcinoma

48%

(15/31)

2

Retinoblastoma

32%

(10/31)

3

Osteosarcoma

10%

(3/31)

4

Breast cancer

0%

(0/31)

5

Ovarian cancer

0%

(0/31)

M 4 D

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EXPERT COMMENTS (4)
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