Genetic Testing for Hereditary Hypercholesterolimia

PALESTRA EM INGLÊS

Familial Hypercholesterolemia (FH) is an inherited disorder associated with a severe elevation of Low-Density-Lipoprotein-Cholesterol (LDL-C) in the blood, which significantly increases the risk for developing cardiovascular disease. If FH is not identified and intensively treated at an early age, individuals with a FH mutation have a 22-fold increased lifetime risk of coronary artery disease (CAD) compared with the general population. However, with early detection and optimal treatment, an affected individual's risk of CAD is similar to that of the general population. It is estimated that over 400,000 Brazilians have FH, but fewer than 1% have been diagnosed. Genetic testing can identify these individuals and inform treatment to prevent premature CAD. People who know that they have a genetic mutation are more likely to understand the importance and efficacy of cholesterol-lowering medications.