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Genetic causes of Hyperlipidemia

Elevated cholesterol and hyperlipidemia, it's all the same. Cholesterol is fat that your body makes as well as coming from types of foods you eat. The higher the numbers, the worse the outcomes. Have enough of it and it can increase your risk of developing heart disease. We also know that diet is not the only contributing factor to elevated cholesterol, genetics can definitely play a role in certain populations. Familial hyperlipidemia (FH) is the most common autosomal dominant genetic disease. This comes out to roughly 1 in 300 people who have this disease. It occurs when there is a mutation in three main genes; LDLR, PCSK9, and the Apolipoprotein B. Each of these three mutations impairs LDL receptor-mediated breakdown of the LDL particle ultimately leading to high LDL levels circulating in the blood. Patients can also be labeled as having FH if they have clinically elevated LDL levels, usually greater than 190.

Written by: 

Dr. Ambreen mohamed, md

Treatment can include high intensity statin therapy, ezetimibe, and PCSK9 Inhibitors. Additional newer treatments, statin alternatives such as bempidoic acid or inclisiran, have also been shown to have significant effects on lowering LDL. This is all to say, the primary goal of treatment in patients with FH, as well as hyperlipidemia in general, is lowering LDL can reduce the risk of developing adverse cardiovascular disease events in the future.