Study: Familial Hypercholesterolemia is Diagnosed Late and Under-treated in US Children

According to an announcement from the FH Foundation, data from the FH Foundation’s CASCADE FH Registry, published in The Journal of Pediatrics, has determined that children living with familial hypercholesterolemia regularly receive late diagnoses and delays in treatment. This is largely a result of cholesterol screening not being utilized for children, despite the presence of national guidelines in the US. The guidelines recommend screening at age two in children who have a family history of cardiovascular disease and at ages nine through eleven for all children.

Familial hypercholesterolemia (FH) is a condition of elevated, abnormally high levels of LDL cholesterol that is caused by a hereditary genetic mutation. The mutation that causes the condition affects the LDLR gene which normally codes for a protein that removes LDL from the bloodstream, as less frequently the PCSK9 and APOB genes. The primary symptoms are elevated LDL cholesterol, deposits of cholesterol in certain areas of the body (eyelids, iris, and tendons of the arms and legs), and early onset cardiovascular issues, such as coronary artery disease, strokes, heart attack, and atherosclerosis. While once considered rare, it is now known that FH affects 1 in 250 people worldwide and only 10% of those individuals are diagnosed. Treatment may include statins or other cholesterol-lowering medications, lipoprotein apheresis and in severe cases liver transplant or other surgical operations. To learn more about familial hypercholesterolemia, click here.

The study utilized data from the FH Foundation’s FH Registry, called CASCADE FH. In a sample of 500 pediatric patients, the average age at diagnosis was nine years. This is seven years later than when guidelines recommend screening to begin for those at higher risk due to family history.

Dr. Sarah de Ferranti, who is one of the principal investigators for the registry and Chief of the Division of Ambulatory Cardiology at the Boston Children’s Hospital, says that these findings reveal a major gap in preventative care:

“The U.S. guidelines are clear but there is a low level of implementing these guidelines that put nearly 300,000 children at risk.”

When diagnosed in a timely manner, treatment for this condition can begin by age eight and is recommended to begin no later than age ten. In the sample, the patients began treatment at age eleven on average. 23.5 percent of these patients were not being treated at all when they enrolled.

“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. 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.” – Katherine Wilemon, founder and CEO, FH Foundation

To learn more about the FH Foundation, click here.

To see the original study, click here.      

To view an infographic click here.

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