What is Familial Hypercholesterolemia

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What is cholesterol?

Cholesterol is a fat-like substance found in every cell in your body. There are two main types:

LDL (or “bad cholesterol”) can clog your arteries and prevent blood from flowing to and from your heart.

HDL (or “good cholesterol”) removes excess cholesterol from your blood.

Too much LDL can cause coronary heart disease, which can lead to a heart attack or stroke.

Unhealthy diet

Being overweight

Smoking and drinking

Your genetics

FH is a hereditary disorder that causes very high cholesterol levels from an early age

If you have FH, your liver is unable to remove enough LDL, or bad cholesterol, from your blood. This means your LDL level remains high, despite positive lifestyle choices.

FH makes you more likely to get coronary heart disease

Having FH means you’re exposed to high cholesterol from an early age, which make you 22 times more likely to develop coronary heart disease than are those with normal cholesterol and no FH.¹

FH is passed down through families

Your results can be informative for your relatives of either gender. If you have FH, there’s a 50% chance that each of your children, siblings, and parents will also have FH. Early identification and treatment can help reduce the risk of coronary heart disease.

Color’s Hereditary High Cholesterol Test analyzes 3 genes currently known to cause most FH cases and can increase your risk for coronary heart disease.

Learn about the genes analyzed:*

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_{*APOB: analysis is limited to chr2:g.21229159_21229161 (codon 3527)}

This test is most appropriate for those who have high cholesterol

Most people (though not all) with FH have high cholesterol.¹ More than 90% of people with FH don’t know they have the disorder.²

Testing negative for FH is valuable information

If a relative carries a genetic mutation that causes FH and your results indicate that you don’t have the same mutation, you can be confident that you didn’t inherit it. Healthcare providers refer to this result as a “true negative,” because it indicates that you haven’t inherited the same mutation that is associated with FH in your relatives.

Even if your relatives don’t have an identified mutation, testing negative for mutations on Color’s Hereditary High Cholesterol Test may indicate that you have a reduced chance of having a hereditary predisposition to high cholesterol.

We recommend that you investigate your family history to learn if anyone has FH or has had genetic testing for FH.

What can I do if I have FH?

Speak with Color’s board-certified genetic counselor
Talk with a genetic counselor to discuss what having FH means for you and your loved ones. They can provide suggestions on how to discuss FH with your healthcare provider and family.

Share results with your healthcare provider
FH can be managed successfully. Your healthcare providers can help you develop the most appropriate treatment plan for managing FH and reducing your cholesterol levels.

Consider sharing results with your family
If you have FH, there’s a 50% chance that your children, siblings, and parents also have it. Discussing FH with your family can help them identify their own risks sooner and take action, if appropriate.

The FH Foundation

The FH Foundation is a patient-centered non-profit dedicated to research, advocacy, and education of all forms of FH.

Visit thefhfoundation.org

National Heart, Lung, and Blood Institute

Provides leadership for a research, training and education program to promote the prevention and treatment of heart, lung, and blood diseases.

Visit nhlbi.nih.gov

American Heart Association

Focused on building healthier lives free of heart disease by promoting heart healthy lifestyle choices, providing accessible education, and funding innovative research.

Visit heart.org

High-quality results

Color’s lab, team and processes generate results you can trust.

Color genetics tests have been validated according to ACMG, AMP, and regulatory agencies’ recommendations for molecular clinical tests.

Our advanced, CAP-accredited and CLIA-certified laboratory uses the newest technology, including 2D barcoded tubes and advanced liquid-handling robots, to ensure the integrity of every result.

The quality of every sample is checked multiple times as it moves through the sequencing and interpretation process.

Our Ph.D. and M.D. scientists use state-of-the-art tools to classify variants according to ACMG guidelines.

A certified medical professional reviews every result before it is released.

References

Khera AV, Won HH, Peloso GM, et al. Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. J Am Coll Cardiol. 2016;67(22):2578-89.
Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013;34(45):3478-90a.

Learn about hereditary high cholesterol