“It is critical to identify children with familial hypercholesterolemia in order to prevent cardiovascular disease through early treatment intervention,” said Sarah de Ferranti, MD, MPH, Chief, Division of Ambulatory Cardiology, Boston Children’s Hospital, and CASCADE FH Registry principal investigator. “The U.S. guidelines are clear but there is a low level of implementing these guidelines that put nearly 300,000 children at risk.”
FH causes a high level of low-density lipoprotein cholesterol (LDL-C) from birth, that left untreated can cause early ASCVD including heart attacks and strokes. Treatment can begin as early as eight years old and is recommended to start no later than 10 years of age. One recent long-term study published in the New England Journal of Medicine demonstrated that initiating statins in childhood and continuing statins into adulthood led to a reduction of cardiovascular events as compared to their parents with the same genetic disorder.
Youth in the registry began lipid-lowering therapy on average at 11 years of age, with statins the most frequently reported medication (n=271; 56.2%). In addition, 23.5% of children eligible for treatment were not receiving therapy at enrollment. Only 39% of the youth achieved recommended LDL-C reduction according to U.S. and international guidelines (LDL-C <130 mg/DL or a 50% reduction from the highest pretreatment LDL-C levels).
“Consequences are devastating when familial hypercholesterolemia is missed, with one in ten heart attacks under 45 caused by FH. Yet evidence shows that we can dramatically change this paradigm with early identification and treatment,” said Katherine Wilemon, Founder and CEO of the Family Heart Foundation. “We will continue to advocate for increased research and awareness of FH as a common cause of premature heart disease in all members of affected families.”