What is Familial Hypercholesterolemia (FH)?

What is Familial Hypercholesterolemia (FH)?

About 1 in 250 people in the population have Familial Hypercholesterolemia


1 in 250 Americans

The Healthy Nevada Project research team is looking at the occurrence of important inherited genetic mutations in our population that increase the risk of certain diseases. These include Familial Hypercholesterolemia, BRCA1/2 mutations and Lynch Syndrome. Research and communication with Healthy Nevada Participants about these risks is starting in the summer of 2018. Early detection of disease causing mutations in the genes associated with these conditions has the power to improve health outcomes in the Healthy Nevada Project participants. The Healthy Nevada Project is excited to roll out more community outreach research projects that benefit the community that has helped this project prosper!

What is Familial Hypercholesterolemia (FH)?

Familial Hypercholesterolemia is an inherited disorder that leads to high levels of Low Density Lipoproteins (LDL or what your doctor may refer to as “bad cholesterol”)(1). This disorder can lead to a higher risk of a heart disease at a younger age.

How does one get FH?

FH is a genetic disorder, therefore you cannot contract it from another person. However, if you do have FH you can minimize your risk for cardiovascular events through diet, exercise, and possibly daily medication. To inherit the disease, only one of your biological parents needs to pass down a mutation to you.

What is the likelihood that I have FH?

About 1 in 250 people in the population have FH, meaning ~1.3 million Americans have FH(1). Statistically, in our study population of 50,000 around 200 participants will have FH.

What is the genetic test looking for when testing for FH?

The genetic test is looking for mutations in three specific genes: the LDLR, the APOB, and the PCSK9 genes(2).

Are there physical symptoms of FH that I should be looking for?

In most cases there are no physical symptoms, however for some people the symptoms can include:
Xanthomas (deposits of cholesterol under the skin or tendons, such as the Achilles tendon) (3)
Xanthelasmas (cholesterol deposits on or around the eyelid) (3)
Corneal arcus that occur prior to 45 years of age (also known a arcus senilis these are cholesterol deposit around the cornea of the eye, these need to be diagnosed by a physician)(3)

How is FH diagnosed?

FH is diagnosed through a combination of a physical examination and laboratory test result(3). A lab test will look at your lipid profile (this includes things like your total cholesterol level and LDL cholesterol level). Levels of total cholesterol over 300 mg/dl and LDL cholesterol levels over 200 mg/dl(3) can help lead to a diagnosis of FH. The Healthy Nevada Project is using the Dutch Lipid Clinic Network Criteria to diagnose this disease. The criteria uses family history, your own medical history, cholesterol levels, and physical symptoms to diagnosis FH(4).

How will I know if my genetic data has a possible FH mutation?

When we have your genetic results the research team at the Healthy Nevada Project will analyze the genetic data to see if you have any mutations in the genes associated with FH. If you consented to be contacted, a Renown Institute for Health Innovation medical researcher will reach out to you with your results and help guide you in the next steps such as working with your physician or a genetic counselor. For those that are identified to have a possible mutation, we will continue to follow up and confirm you have the necessary information to provide to a primary care provider.

What can I do if I am diagnosed with FH?

Early detection is a primary factor in better outcomes for patients with FH. If your results reported a mutation that is associated with FH it is important to work alongside your physician to go through the lab tests and physical examination. Treatment of FH revolves around lowering the risk of cardiovascular events such as a heart attack or stroke. This can be done through lifestyle changes such as diet, exercise, and often time’s implementation of drug therapy with cholesterol-lowering medications(3). Lowering the amount of daily fat intake in your diet from things such as butter, full fat cheeses and dairy, beef, and pork(3). These are just a few recommendations, a nutritionist is the best asset in reassessing a diet and making a plan that can allow for long-term maintenance.

Why is the Healthy Nevada Project looking at Familial Hypercholesterolemia?

The CDC Office of Public Health Genomics has provided the public with a list of Genomic Tests by Level of Evidence, ranging from Tier 1 to Tier 3. Tier 1 results have been shown to be important enough that both the patient and your doctor should know the results. Mutations associated with Familial Hypercholesterolemia are considered tier 1 results and appropriate action should be taken by both the patient and doctor to prevent the premature onset of disease.

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