Cholesterol and family history: when genetics matters

Familial hypercholesterolemia (FH) is an inherited, autosomal codominant disease that increases the risk for cardiovascular mortality by 100 fold. Patients usually have LDL levels above 300 mg/dl. Although signs such as tendon xanthomas, xanthelasmas and corneal arcus may suggest the diagnosis, genetic testing is the'most accurate way of diagnosing FH. Genetic testing has been shown to be a cost-efficient method to screen individuals and their relatives for FH. Establishing an accurate diagnosis is important: high potency statins are first-choice agents, the treatment goal is at least a 50% reduction in LDL cholesterol, and LDL apheresis may be indicated.