Understanding Inherited High Cholesterol in Children: Essential Insights for Families

For families at The Children’s Clinic in Jackson, TN, it’s essential to recognize that cholesterol issues aren’t limited to adults. In fact, approximately 1 in 250 children have high cholesterol due to a genetic condition rather than lifestyle, diet, or exercise.

This condition, known as familial hypercholesterolemia (FH), puts these children at risk for early heart disease—even if they lead active, healthy lives. Here’s what families need to know about FH, especially the more severe form that can be life-threatening for children and teens.

Cholesterol and Your Child’s Health

Cholesterol is a natural substance found in every cell of the body, playing a vital role in hormone production and cellular health. While the liver naturally regulates cholesterol levels, animal products like dairy and meat add extra cholesterol. In children with FH, however, a genetic mutation disrupts the body’s ability to process cholesterol properly, leading to a buildup of LDL ("bad") cholesterol in the arteries from birth. This buildup can result in heart attacks or strokes early in life.

A Common but Often Unknown Health Risk

For many families, FH is unfamiliar territory. Millions live with FH globally, yet only about 30% are aware of their condition. FH comes in two forms based on how the gene mutation is inherited.

Types of Familial Hypercholesterolemia (FH)

  1. Heterozygous FH (HeFH): The more common form, where a child inherits one abnormal copy of the FH gene from a parent. Approximately 1 in 250 people have HeFH.

  2. Homozygous FH (HoFH): A rare and severe form that occurs when a child inherits an abnormal copy from both parents, requiring immediate treatment.

The Importance of Early Detection

While FH may sound intimidating, early detection and treatment can reduce heart disease risks by up to 80%. Start by knowing your family’s health history. Inform your child’s pediatrician of any early heart attacks in close relatives or instances of high cholesterol and coronary artery disease.

The American Academy of Pediatrics (AAP) recommends cholesterol screening for children without family risk between ages 9 and 11, but for those with potential genetic risks, screening can start as early as age 2. Elevated LDL levels, especially over 160 mg/dL, may indicate FH. Children with HoFH may show extreme levels above 400 mg/dL.

Signs Parents Should Know

In some cases, children with HoFH may develop visible cholesterol deposits called xanthomas or xanthelasmas near the elbows, legs, fingers, or eyes. If you notice these, inform your pediatrician.

Understanding HoFH

HoFH is rare but serious, affecting about 1 in 300,000 people worldwide. It can cause cholesterol buildup severe enough to trigger heart attacks in adolescence or earlier. If your child is diagnosed with HoFH, it’s crucial to remember that this condition isn’t caused by diet or lifestyle factors.

Developing a Treatment Plan

Modern treatments provide multiple avenues for managing FH. The Children’s Clinic in Jackson, TN, offers specialized resources to help your child maintain a heart-healthy lifestyle. A treatment plan might include:

  • Statins: Drugs that help lower cholesterol production and clear excess cholesterol.

  • Non-Statin Medications: Targeted treatments that work with the liver and digestive system.

  • Lipoprotein Apheresis: A weekly procedure that filters LDL cholesterol from the blood.

Alongside these treatments, adopting a heart-healthy diet, staying active, and avoiding tobacco are essential. A dietitian can help you plan meals that support your child’s health and fit your family’s preferences.

Building a Family Support System

Your child’s treatment plan will involve family-wide support. Starting new health routines can be challenging, so don’t hesitate to ask the healthcare team for assistance. Encourage healthy sleep, regular meals, and family activities to ease this transition.

Screening siblings and extended family members is also crucial. With early intervention, individuals with FH can achieve cholesterol levels similar to those in the general population, leading to a healthier future for your family.

The Children’s Clinic in Jackson, TN, is here to support you every step of the way, from early diagnosis to long-term care.

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