Familial Hypercholesterolemia: What It Is and How It’s Inherited

What is familial hypercholesterolemia and how is it inherited? Familial hypercholesterolemia (FH) is a genetic disorder whose two most common signs include high levels of low-density lipoprotein (LDL) cholesterol and early heart disease. It is important for people who have these signs to be tested as soon as possible.

How Is FH Inherited?

People with FH commonly have low density lipoprotein (LDLR) mutations to the following genetic components: Apolipoprotein B in the ApoB100 form, the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene, and/or the low-density lipoprotein receptor adapter protein 1 (LDLRAP1) gene. People with these mutations have a 50% chance of passing the disorder on to their children. This is why family medical history is an essential tool for diagnosing FH.

What Are Indicators of FH?

In addition to genetics, there are several indicators that a person may have FH and should receive testing for the disorder as quickly as possible:

  • Family history of high cholesterol
  • High LDL readings
    • above 190 mg/dL in adults
    • above 160 mg/dL in children
  • Cholesterol deposits on the body
  • Strokes at a young age
  • Heart attacks at a young age
  • Chest pain for unknown reasons

A person who experiences these symptoms should be tested as soon as possible. The sooner FH is diagnosed, the more effectively it can be treated and controlled.

How Is FH Diagnosed?

Diagnosing FH is a thorough, multi-step process which includes a range of methods. Commonly used diagnostic tools for FH include:

  • Family medical history
  • Personal medical history
  • LDL-related cell studies
  • Blood tests and genetic tests

Receiving a diagnosis for FH may require you to gather medical information from your family members and attend several doctor appointments. If you suspect you have FH, it is highly recommended that you begin preparing for an FH specialists’ visit right away.   

How Is FH Treated?

The earlier FH is diagnosed, the quicker treatment for the disorder can begin. Common treatment recommendations for eliminating or reducing the cardiac problems associated with FH include:

  • Taking an LDL-lowering medication
  • Taking bile acid sequestrants     
  • Developing a healthier diet
  • Implementing regular exercise

In combination, these treatment measures help many people reduce or eliminate high LDL, and thus reduce their chance of suffering cardiac events and other FH-associated symptoms.

How We Help

Once people hear about FH, the most common response is, “What is familial hypercholesterolemia and how is it inherited?” the Family Heart Foundation is a non-profit organization dedicated to answering this question and providing further information about FH. Our mission is to increase the rate of early diagnosis for FH, raise awareness about the disorder, and save lives by encouraging proactive treatment. Our website delivers in-depth information about FH, and our Cascade FH Registry allows diagnosed patients the chance to contribute to FH understanding. Make a stand today and join us in the fight against FH!   

For more information about FH and the Family Heart Foundation, call us today at (626) 465-1234, or use our contact form.

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