Familial Hypercholesterolemia in Children

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Familial hypercholesterolemia is a common inherited metabolic disease that patients are either born with or not. Children of a parent with this condition have a 50 percent chance of inheriting it themselves.

This condition is known by other names, including low density lipoprotein receptor mutation, Type II hyperlipoproteinemia and hypercholesterolemic xanthomatosis.

Because so many of the estimated 10 million people worldwide who have FH are undiagnosed, heart disease and death is occurring at much younger ages than expected. The best way to help change this is to diagnose and treat it beginning in childhood.


Familial hypercholesterolemia is caused by chromosome 19 having a defect that makes the act of removing LDL cholesterol from the bloodstream an impossibility for the body. This defect is inherited and only one parent with it is needed in order for the child to inherit it.

Signs and Symptoms

The symptoms that can occur in children and adults with familial hypercholesterolemia include:

  • Fatty skin deposits (over knees, buttocks, elbows and tendons; around cornea of eye)
  • Obesity
  • Chest pain (related to coronary artery disease)


The diagnosis of familial hypercholesterolemia in children is the same as with adults. It includes a review of the laboratory work, DNA analysis, physical exam and the patient’s family history.


Research has shown that familial hypercholesterolemia in children can be effectively treated with strategies involving lowering lipids. Because statins have been proven to be safe in children and to significantly reduce low-density lipoprotein cholesterol levels, they are a recommended therapy for children.

To reduce the risk of a patient with familial hypercholesterolemia (FH) developing coronary heart disease CHD later in life, it is recommended that they be diagnosed and treated early in life. It is estimated that 45 percent of the males and 20 percent of the females with FH develop CHD by age 50.

Diet and medication are other parts of an effective treatment strategy.


Familial hypercholesterolemia in childhood: theapeutical options. Jessica Rodenburg. July 2004. Pediatrics for Parents. https://findarticles.com/p/articles/mi_m0816/is_7_21/ai_n13246890/

What is FH? MedPed. https://www.medped.org/MEDPED-What-is-FH.html

Familial hypercholesterolemia – Overview. Editorial Team: David Zieve, MD, MHA, Greg Juhn, MTPW, David R. Eltz. Previously reviewed by Glenn Gandelman, MD, MPH, Review provided by VeriMed Healthcare Network. Last reviewd on 9/12/2008. University of Maryland Medical Center. https://www.umm.edu/ency/article/000392.htm