Familial hypercholesterolemia (FH) is a genetic disorder that afflicts approximately 1 in 250 people. Interestingly, while it is estimated that more than one million people in the United States have FH, less than 10% of these individual know they have it. FH is a disorder in which individuals have significantly high blood levels of low-density lipoprotein (LDL) cholesterol, more commonly known as “bad cholesterol.” When blood levels of this bad cholesterol become high, and remain high for extended periods of time, the cholesterol can accumulate into the walls of blood vessels which raises the chances of serious health problems such as heart attack or stroke.
For most people, maintaining low levels of LDL cholesterol can be accomplished through lifestyle choices such as choosing a healthy diet, proper exercise, and quitting smoking. However, individuals who are affected by FH have high cholesterol levels early in life. This has many detrimental effects and in these individuals heart disease my start to develop earlier than the normal population, leading to heightened risks for heart attack and stroke at a young age. Because of this, early and frequent diagnostic testing has been encouraged for anyone with a family member with high cholesterol.
Once an individual is diagnosed with FH, treatment can begin. These treatments include lifestyle changes or improvements in diet and exercise, and drug regimens. While there are many drugs to treat high cholesterol, many of the recently approved medications for FH were not approved for children of all ages. However, last week, the United States Food and Drug Administration (FDA) approved the drug Repatha (Manufactured by Amgen Inc.) for use in children as young as 10-years old. After the approval, David M. Reese, MD, vice president of research and development at Amgen said, “The approval of Repatha for pediatric patients with FH represents a much-needed adjunct treatment option for these children with genetically high cholesterol who are unable to manage their high LDL-C with other lipid-lowering agents alone.”
The FDA based their approval on recent clinical data in children aged 10-17 years old. The participants in the study had FH and received a single injection of Repatha monthly for 6 months. When the blood LDL levels of these patients were compared to patients who were not administered Repatha, the researchers found a 38% reduction in blood LDL levels. The approval of this lifesaving medication is a welcomed relief for pediatric FH patients, their families, and advocates.