Familial Hypercholesterolemia: It’s Not All Your Fault

Screening for this disorder is recommended if there is a strong family history of early development of heart disease in first degree relatives (i.e. parents, siblings).  A simple fasting lipid panel can detect abnormal cholesterol levels. Typically, the LDL level is elevated with a relatively normal triglyceride level. High LDL and triglyceride levels may be indicative of another lipid metabolism disorder. The presence of xanthomas is strongly indicative of the genetic disease.  Recently, genetic testing has become commercially available to test for familial hypercholesterolemia.  A product called LIPOchip has been developed to screen for over 200 different variations of this genetic defect and is routinely used in Spain.

Treatment of familial hypercholesterolemia is similar to the management of non genetic forms of high cholesterol.  A heart healthy diet and regular exercise are recommended.  Aggressive control of other risk factors that contribute to heart disease are implemented.  The use of cholesterol lowering medications such as statins is routinely used to achieve target goals. The main difference is that familial hypercholesterolemia is aggressively treated even at an early age. Homozygotes may be on statin therapy as early as the age of eight depending on their family history and lipid levels. If LDL levels cannot be controlled with multiple medications, then LDL apheresis (removal of LDL directly from the blood stream) may be recommended.

In summary, not all high cholesterol is from poor diet and lack of exercise.  In fact, a significant determinant of our cholesterol levels is genetic in nature. Familial hypercholesterolemia is a genetic disorder that markedly increases heart disease risk.  Family members of relatives who have developed early heart disease should be screened and, if found to have this genetic defect, aggressively treated.