Pathophysiology
1) abnormal growth of small blood vessels 2) results in hemangiomas of spinal cord, hemangioblastoma of cerebellum, and retinal angioma
Signs and Symptoms
hypertension secondary to renal disease and pheochromocytoma
Characteristic Test Findings
Laboratory – increased erythropoietin from renal cell cancer
Associated Conditions
1) renal cell carcinoma (50%) 2) pheochromocytoma (25%) 3) pancreatic cystadenomas (15%) 4) epididymal cysts 5) liver cysts 6) renal cysts 7) polycythemia vera
Biochemistry
1) cause is abnormal tumor suppressor gene (VHL) on 3p25050 2) functional defect is lack of ability to inhibit elongation of RNA synthesis
Inheritance/Epidemiology
1) autosomal dominant 2) variable penetration 3) affects 1/30,000-40,000
Treatment
1) resection of cerebellar hemangioblastomas 2) laser therapy for retinal angiomas 3) yearly screening ultrasound and/or CT for renal cell cancer 4) nephrectomy
Tips for USMLE
1) pancreatic cystadenomas – usually nonfunctional 2) renal cysts – usually bilateral but do not affect kidney function 3) 50% develop renal cell carcinoma
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