What is the standard therapy for patients with familial hypercholesterolemia?

The standard therapy for patients with familial hypercholesterolemia is the use of statins. Statins are effective because they inhibit HMG-CoA reductase, an enzyme crucial for cholesterol synthesis in the liver, which leads to a decrease in LDL cholesterol levels. This reduction is particularly important for individuals with familial hypercholesterolemia, a genetic disorder characterized by significantly elevated cholesterol levels, increasing the risk for cardiovascular disease.

Statins not only lower LDL cholesterol but also provide additional cardiovascular benefits, including improving endothelial function and stabilizing atherosclerotic plaques. The robust efficacy of statins in both lowering LDL levels and reducing cardiovascular events makes them the first-line therapy for managing familial hypercholesterolemia.

Other lipid-lowering agents, such as fibrates, omega-3 fatty acids, and bile acid sequestrants, may have roles in lipid management but are not specifically recognized as the standard treatment for familial hypercholesterolemia. Fibrates primarily lower triglyceride levels, while omega-3 fatty acids are known for their ability to reduce triglycerides and have anti-inflammatory effects. Bile acid sequestrants can lower LDL cholesterol but are often used as adjuncts to statin therapy rather than as primary treatments for this condition.