Familial Hypercholesterolemia (FH) in Children
What is Familial Hypercholesterolemia (FH)?
Familial Hypercholesterolemia (also called FH) is a genetic disorder that results in severe elevations of blood cholesterol levels and an increased risk of early heart disease (defined as starting in men before age 55 and in women before age 65). FH is caused by changes in a gene that lowers the body’s ability to remove low-density lipoprotein (LDL) cholesterol (the “bad” cholesterol) from the blood, which makes the levels of LDL cholesterol very high. FH is inherited. In most types of FH, a parent with FH has a 50% chance of passing the gene that causes FH to their child. If someone is diagnosed with FH, their parents, siblings, and children should also have their cholesterol checked.
Children with FH have high blood LDL cholesterol levels that can cause heart disease at an early age. They also often have other family members that have high cholesterol, early heart disease, or heart attacks. For many people, high cholesterol levels are the result of a lifestyle of eating a diet that is high in fat, being overweight, having diabetes, or not getting enough exercise. Children with FH can be normal weight, have a good diet, exercise enough, and still have a high LDL cholesterol level.
Why is FH a problem for my child?
Familial hypercholesterolemia results in rapid atherosclerosis, often starting before 10 years of age. Atherosclerosis happens when fat, cholesterol, and other substances build up in the walls of arteries and form hard structures called plaques. Over time, these plaques can block the arteries and cause early heart disease, heart attacks or strokes. If your child has FH, plaque can build up and narrow the arteries and make them stiffer. These changes make it harder for blood to flow through them. Clots may form in these narrowed arteries and block blood flow. Pieces of plaque can also break off and move to smaller blood vessels, blocking them. The blockage stops blood and oxygen from reaching parts of the body, which can result in damage or tissue death. This is a common cause of heart attack and stroke.
How common is FH?
Worldwide, FH happens in about 1 in 300-500 people. In some populations, FH can occur in 1 in 100 people. In children FH is a "silent" disease and does not cause any symptoms.
How is FH diagnosed?
FH can only be diagnosed with a cholesterol blood test. This is one of the reasons checking cholesterol levels in all children at 9-10 years of age is now recommended. Diagnosing FH at a young age is important because the treatment works best when started early before too much extra cholesterol in the blood vessel walls builds up. Early treatment of FH in adults has been shown to reduce their risk for future heart disease. Treating FH in children has been shown to reduce atherosclerosis.
How is FH treated in children?
Eating a healthy diet low in saturated fat and cholesterol can lower LDL cholesterol. For children with FH, this is often not enough. For most children they need to change their diet and take medicine. Most children need to make these changes throughout their lives.
The most common medicines that lower cholesterol used to treat FH are called statins. They work by decreasing the amount of cholesterol made in cells. Statins have been used with success to treat adults with high cholesterol. Statins can not be taken during pregnancy because they may cause birth defects to the unborn baby. If your child takes a statin part of the treatment is to check blood cholesterol levels, and do other blood tests on a routine basis.
Some children with FH need more than one type of medicine to lower their LDL cholesterol level.
Familial Hypercholesterolemia Websites:
The FH Foundation: www.Thefhfoundation.com
Patient information from the National Lipid Association: www.Learnyourlipids.com
Make Early Diagnosis to Prevent Early Death (MEDPED): www.medped.org
Please contact AFCH Pediatric Preventive Cardiology Clinic (PPCC)
if you would like more information. 608-263-6420
The information provided should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Any duplication or distribution of the information contained herein is strictly prohibited.
Last Updated: 02/14/2013
Copyright © 02/14/2013 University of Wisconsin Hospitals and Clinics Authority. All rights reserved. Produced by the Department of Nursing. HF#7466
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