Familial hypercholesterolemia (FH) is a genetic condition that alters the processing of cholesterol in the body. As a result of this mutation, cholesterol accumulates in the bloodstream, causing individuals with FH to have high levels of low-density lipoprotein cholesterol (LDL-C) or “bad cholesterol”.
If left untreated, cholesterol can deposit in the walls of arteries over time and cause heart attacks and strokes very early in life. The cardiovascular disease associated with FH can be life-threatening if not addressed.
While FH is common, affecting 1 in 250 people, it is vastly under-diagnosed, making screening for FH paramount. Early detection of FH is especially important for reducing risk of developing cardiovascular disease, as individuals with FH are often born with high levels of cholesterol.
Additionally, because FH can be inherited, the screening of first-degree relatives is highly recommended when one family member is diagnosed. Treatment of FH through the use of medication is also necessary for individuals with FH, as lifestyle and diet changes alone cannot reduce LDL levels to a normal level.