A rare disorder of cholesterol transport caused by ABCA1 mutations, causing extremely low HDL cholesterol and accumulation of cholesterol in tissues. Large orange-yellow tonsils are characteristic. Increased cardiovascular risk.

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

Good with management of complications. Corneal opacities universal but don't affect vision significantly. Enlarged orange tonsils cosmetic concern only. Peripheral neuropathy affects 50-60%, usually mild. Cardiovascular disease risk mildly increased. Splenomegaly common but rarely requires intervention. No specific treatment for underlying condition. Life expectancy near normal with proper monitoring. Cholesterol-lowering medications not effective. Supportive care for neuropathy.

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