An autosomal dominant disorder caused by VHL gene mutations affecting tumor suppressor function. Predisposes to hemangioblastomas (brain, spinal cord, retina), clear cell renal cell carcinoma, pheochromocytoma, and pancreatic cysts.

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Good with surveillance. Without screening: median survival 49 years. With surveillance: life expectancy approaches normal. Renal cell carcinoma develops in 40-60% by age 60. CNS hemangioblastomas rarely fatal. Pheochromocytomas usually benign but require removal. Early detection of tumors allows minimally invasive treatment. Annual screening essential. Genetic testing identifies at-risk family members. Pregnancy management for pheochromocytoma risk. Quality of life maintained with proactive management.

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning