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Inherited High Cholesterol in Children: What Families Need to Know

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By: Christopher Snyder, MD, FAAP & Brad McQuilkin, MD, FAAP

Many parents think of cholesterol as a health concern that only affects adults. But did you know that around 1 in 250 children have high cholesterol levels that aren't related to diet, exercise or lifestyle?

These kids have a genetic condition called familial hypercholesterolemia, or FH. Even if they eat healthfully and live an active life, they are at risk for early heart disease.

Here's what parents and families need to know about FH—especially the most serious form of this condition that can be life-threatening for children and teens.

Cholesterol and your child's health

Cholesterol is a waxy, fat-like substance found normally in every cell of our bodies. The liver produces cholesterol to keep our cells working smoothly. Cholesterol also supports the production of hormones and vitamins essential for continued good health.

When we eat animal products like dairy, eggs or meat, we take in extra cholesterol. In most cases, our bodies can remove what we don't need. But for people with FH, a mutation in the genetic code gets in the way of this process. As a result, LDL cholesterol (often called "bad" cholesterol) builds up in the arteries from birth. This buildup, called plaque, can lead to heart attacks and stroke early in life.

A health threat many families don't know about

If this is the first time you've heard of FH, you're not alone. Millions of people worldwide live with FH, but only 30% know they have it.

There are two forms of FH, and they're different based on the way the FH gene mutation is passed from parent to child.

What are the two types of familial hypercholesterolemia (FH)?

  1. The most common form of FH is known as heterozygous FH (HeFH). A child with FeFH has inherited an abnormal copy of the FG gene from one birth parent. An estimated 1 in 250 people have HeFH.

  2. When a child inherits an abnormal copy of the FH gene from both parents, they have a condition known as homozygous FH (HoFH). HoFH is a rare condition that needs immediate treatment.

Finding FH early can reduce heart health risks

As frightening as all this may sound, there's good news. Identifying and treating FH early can reduce risks for coronary artery disease by as much as 80%. The process begins with knowing your family health history.

Be sure to tell your pediatrician if a parent, grandparent, aunt or uncle of your child suffered early heart attacks (before age 55 for males and age 65 for females). High cholesterol or coronary artery disease in close relatives should be noted, too. (This article includes a list of heart history factors to mention.)

At what age should my child be screened for high cholesterol?

Based on this background, your child's doctor can decide how early to test your child's cholesterol levels. When no family risks are present, the American Academy of Pediatrics (AAP) recommends cholesterol screening starting between age 9 and 11. But when there's a chance of inherited heart trouble, screening starts as early as age 2.

If blood tests show your child's LDL cholesterol level is above 130 mg/DL, then FH may be present. Children diagnosed with HoFH often have cholesterol levels that are 400 mg/DL, or more than 4 times the level considered safe between ages 2 and 19. Extremely high LDL levels of 1,000 mg/dL have been seen in some children with HoFH.

Are there possible signs of high cholesterol in children that parents may notice?

Sometimes a child with HoFH will have orange or yellowish cholesterol deposits (xanthomas) on or near their elbows, legs, ankles, buttocks or fingers. Or, they may be near the corners of the eyes (xanthelasmas). If you see these signs, let your pediatrician know right away.

Understanding HoFH

HoFH, the more severe form of inherited high cholesterol, is very rare. It affects only about 1 in 300,000 people worldwide, but health care professionals are working to widen awareness of the condition. Dangerous buildup of cholesterol caused by HoFH can cause heart attacks in the teen years or younger. In fact, people with untreated HoFH frequently succumb to heart disease before age 30.

If tests suggest your child has this condition, remember you didn't do anything to cause it. Having the FH gene does not reflect on your diet, your fitness level, or any other risk factor you can control. Keeping this in mind can help you move forward with a treatment plan for your child (and screening for the rest of your family).

Creating a HoFH treatment plan for your child

Thanks to continuous research and development, there are many ways to reduce LDL cholesterol levels in kids and adults. The FDA has approved several medications for children, and more are in development. So, your child's medical team will have multiple tools to work with in addressing your child's HoFH.

If your child is diagnosed with HoFH, your pediatrician will recommend a medical specialist focused on heart health and lipids. Your child's care plan might include:

  • Statins, or drugs that reduce the amount of cholesterol made by the liver while helping the liver remove cholesterol already in the bloodstream.

  • Non-statin medications that work with the liver, small intestine and specific chemical pathways to lower LDL cholesterol.

  • Lipoprotein apheresis, a procedure that removes LDL cholesterol from the blood each week.

Along with medication, eating a heart-healthy diet, staying active and avoiding tobacco will be important throughout your child's life. A dietitian may join your child's care team to offer guidance and suggestions for nutritious meals and snacks your family will enjoy.

After an FH diagnosis: family-wide support & screening

Whatever steps your child's medical team recommends, you will need support too. Keep in mind that starting a new health routine can create stress that affects everyone's mental well-being.

Don't hesitate to ask the health care team for help if you have difficulty getting your child to take their meds or settle into the treatment plan. Focusing on family basics such as healthy sleep, regular meals and free time with friends will help all of you maintain a good balance.

Make it a priority to have your child's siblings screened, and share news of your child's diagnosis with other family members. When people with FH address high LDL cholesterol early in life, their risks can drop to the same levels as the general populationa healthy goal worth pursuing.

More information

About Dr. Snyder

Christopher S. Snyder, MD, FAAP, Chair of the American Academy of Pediatrics (AAP) Section on Cardiology and Cardiac Surgery, is Director of Pediatric Cardiology with the Children's Hospital of Richmond at Virginia Commonwealth University Rainbow Babies and Children's Hospital, Case Western Reserve University School of Medicine. He is also a member of the Virginia AAP chapter. Christopher S. Snyder, MD, FAAP, past Chair of the American Academy of Pediatrics (AAP) Section on Cardiology and Cardiac Surgery, is Director of Pediatric Cardiology with the Children's Hospital of Richmond at Virginia Commonwealth University Rainbow Babies and Children's Hospital, Case Western Reserve University School of Medicine. Dr. Snyder is also a member of the Virginia AAP chapter.

About Dr. McQuilkin

Dr. McQuilkin is a member of the AAP Section on Cardiology and Cardiac Surgery and a pediatric cardiologist with the Children's Hospital of Richmond at Virginia Commonwealth University. He is a member of the Virginia AAP chapter as well.Dr. McQuilkin is a member of the AAP Section on Cardiology and Cardiac Surgery and a pediatric cardiologist with the Children's Hospital of Richmond at Virginia Commonwealth University. Dr. McQuilkin is a member of the Virginia AAP chapter as well.

Last Updated
5/30/2024
Source
American Academy of Pediatrics Section on Cardiology & Cardiac Surgery (Copyright © 2024)
The information contained on this Web site should not be used as a substitute for the medical care and advice of your pediatrician. There may be variations in treatment that your pediatrician may recommend based on individual facts and circumstances.
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