Familial hypercholesterolemia has an estimated prevalence of 1 in 200-250 individuals, and copy number variants in LDLR account for up to 10% of cases. This condition is associated with significant elevations in low-density lipoprotein (LDL) cholesterol. In addition, total cholesterol is typically increased (usually greater than 300 mg/dL in untreated individuals) with normal to slight elevations in triglycerides. Familial hypercholesterolemia is associated with increased risk of premature cardiovascular disease, specifically atherosclerosis, and symptoms include angina, heart attack, and rarely stroke. Other findings include a hazy ring along the outer rim of the iris known as corneal arcus and xanthomas, particularly of the hands and Achilles tendon.