Familial Dysbetalipoproteinemia
Familial Dysbetalipoproteinemia is a genetic disorder that affects how the body processes lipids, particularly cholesterol and triglycerides. It is caused by mutations in the ApoE gene, which plays a crucial role in lipid metabolism. Individuals with this condition often have elevated levels of lipoproteins in their blood, leading to an increased risk of cardiovascular diseases.
Symptoms may include the presence of yellowish deposits of fat in the skin or around the eyes, known as xanthomas. Diagnosis typically involves blood tests to measure lipid levels, and treatment may include lifestyle changes and medications to manage cholesterol levels effectively.