Familial Hypercholesterolemia: What Exactly Is This?

Familial Hypercholesterolemia

Familial Hypercholesterolemia (or FH) is an inherited disorder that leads to aggressive and premature cardiovascular disease. This includes problems like heart attacks, strokes, and even narrowing of our heart valves. For individuals with FH, although diet and lifestyle are important, they are not the cause of high LDL. In FH patients, genetic mutations make the liver incapable of metabolizing (or removing) excess LDL. The result is very high LDL levels which can lead to premature cardiovascular disease.

For more information, visit the FH Foundation Website by clicking on the image above

For more information, visit the FH Foundation Website by clicking on the image above

FH facts

About 1 in 250 people worldwide have FH.

In the United States alone, an estimated 1.3 million people live with FH. Yet only 10% of them are diagnosed. Can you imagine? Nearly 2 million people in the US might have FH and not even know it. Perhaps they won’t know it until they have a heart attack! This is what we want to change!

  • Over 90% of people with FH have not been properly diagnosed.
  • FH runs in families. If one parent has FH, each child has a 50% chance of having FH.
  • 1 in 250 people in the world have FH. 
  • An estimated 1.3 million people in the U.S. have FH.
  • If left untreated, men have a 50% rise of having a heart attack by age 50. Untreated women have a 30% risk by age 60.
  • 1 in 160,000 to 1 in 1 million people have HoFH.  
  • FH is even more common in certain populations such as French Canadians, Ashkenazi Jews, Lebanese, and South African Afrikaners. In these populations FH may be found as frequently as 1 in every 67 people.

What can I do?

FH is treatable!  If FH is found early, serious problems of the heart and blood vessels may be prevented or dramatically delayed by taking steps to protect yourself. These include:

  • Not smoking.
  • Exercising regularly.
  • Eating a healthy diet low in saturated and trans fats.
  • Taking medications.
  • Going on LDL-apheresis.

Nearly 100% of people with FH will require cholesterol-lowering medications. For some people with FH, more aggressive measures are needed. 

It is important to find FH and take action at any age, because when treated, the risk of heart disease can be reduced to levels similar to those of the general population.

Why participate in FH clinical research?

Clinical trials test new treatments or new combinations of treatments. Clinical trials help researchers evaluate the safety and effectiveness of therapies to improve the quality of care for affected individuals. 

By participating in clinical research, you will play an active role in your own healthcare and contribute to the greater good. Because FH is a family disorder, clinical research offers hope and the opportunity to have a powerful impact on the lives of your family members and your future generations.


If you are interested in being considered in FH research trials at Great Lakes Clinical Trials, please click HERE to fill out an interest form or call our patient care representatives at (773) 275-3500.