Eye color runs in the family. Hair type runs in the family. High cholesterol runs in the family, but that is not where the story ends. You can do something about it. 

For many families, high cholesterol and early cardiovascular disease stem from genetic disorders – including familial hypercholesterolemia (FH) and elevated lipoprotein(a), or Lp(a).

FH or high Lp(a) is a diagnosis that comes with treatment, management, and advocacy. By sharing information among family members we can all save more families, more hearts.

It is important that you first understand your risk of inherited cardiovascular disease so that you can better manage it throughout your lifetime. 

Two hidden genetic disorders that can lead to very early heart disease are familial hypercholesterolemia (FH) and elevated lipoprotein(a), also known as Lp(a). 

It's important to know that FH is different from just "high cholesterol." FH leads to very high LDL cholesterol levels since birth. So if your healthcare provider doesn't realize you've had high cholesterol your whole life, your treatment may not be aggressive enough.  

Since FH is passed down in families, your health care provider may also be missing the opportunity to test your children, siblings, and parents for FH. Only about 30% of people with FH know they have it.

High Lp(a), is also a genetic condition that can significantly increase the risk of early cardiovascular disease. Almost everyone gets tested for high cholesterol, but fewer than 1% of Americans have had their Lp(a) measured. An Lp(a) screening is not part of a standard blood test that provides your cholesterol levels. The Lp(a) test measures the level of Lipoprotein(a) in your blood, and your doctor needs to order it directly.

It is estimated that roughly 20% of them have elevated levels. It’s safe to say that most people with high Lp(a) are unaware they are at risk. It is recommended that everyone have their Lp(a) checked at least once. For people who already have heart disease, have had a stroke, or have a strong family history of heart disease, there is more urgency to know your levels.

Knowing that your LDL cholesterol is high is a good start, but there is a lot more that goes into assessing your heart health. It’s important to look at your whole lipid panel including your triglycerides and HDL. In adults, triglycerides should be below 150 mg/dL. If they are elevated consider increasing your exercise, cutting down on alcohol when necessary, and restricting simple carbohydrates like cookies, cakes, ice cream, white rice, and white bread. As for HDL (also known as the good cholesterol) men’s levels should be above 40 mg/dL and women’s above 50 mg/dL. Low levels may be genetic, but there are some lifestyle measures that can improve HDL. You can consider increasing exercise, weight loss or quitting smoking.

You also want to think about whether you have other heart disease risk factors. The more risk factors the greater the cardiac risk. So, make sure you know your blood sugar level and your blood pressure numbers. Exercise regularly, eat a well-balanced diet and maintain an ideal body weight.

Also consider how long your LDL has been elevated.  If you have genetically high LDL cholesterol, that’s different from gaining weight and having your LDL increase.  With genetically high cholesterol, your level has been high since birth, so your heart (and other arteries) has been exposed to high cholesterol for a very long time. People who have genetically high LDL are at higher risk for early heart disease than people whose LDL increased later in life.

Finally, if you have high LDL cholesterol, it is also important for you to have your Lipoprotein(a) measured.

For some people, cardiovascular disease runs in their family because of exposure to bad habits such as cigarette smoking, sedentary lifestyle, and poor diet which can lead to high cholesterol, diabetes, obesity, and high blood pressure. 

For other people, cardiovascular disease runs in their family because of genetics. Two genetic disorders that can lead to very early heart disease are familial hypercholesterolemia (FH) and elevated Lipoprotein(a), also known as Lp(a).  To learn more about FH and Lp(a) click here.

To learn more about FH and Lp(a) click here.

FH is a genetic disorder that causes high levels of LDL cholesterol from birth. It affects approximately 1 in 250 people worldwide, but less than 30% of those with FH are diagnosed in the U.S. Early diagnosis and appropriate treatment lowers the risk of cardiovascular disease.

Learn more about Familial Hypercholesterolemia→

Lp(a) is the shorthand for Lipoprotein(a). Also referred to as “L-P- little-A.” It’s a very complex lipoprotein that appears to increase the risk for both heart disease and stroke when elevated. It can cause artery blockages, inflammation, and possibly clotting in arteries.

Learn more about Lipoprotien(a)→

FH and high Lp(a) are practically invisible. Often, the first sign of either condition is a heart attack. Some individuals do have xanthomas, which are accumulations of cholesterol under skin by the Achilles tendon, knuckles, elbows, and/or knees. Some have xanthalasmas, deposits of cholesterol under the skin on the eye lids. Some individuals may develop corneal arcus, a white arc near the colored part of the eye.

FH can be clinically diagnosed with a lipid panel and a family history of early heart disease or stroke. FH is suspected when untreated LDL cholesterol levels are above 190 mg/dL in adults and above 160 mg/dL in those 20 years old and younger.  FH can also be diagnosed with a genetic test which tests for common genes known to cause FH.

Learn more about diagnosing Familial Hypercholesterolemia→

A Lipoprotein(a) test measures the level of Lipoprotein(a) in your blood through a simple blood test. It is not part of a standard lipid panel, so your clinician will need to order it directly if they suspect you may have high Lp(a). Generally, results over 50 mg/dL or 125 nmol/L are considered high and could increase an individuals’ risk for heart attacks and stroke.

Learn more about diagnosing high Lipoprotein(a)→https://familyheart.org/diagnosing-high-lipoproteina

Currently, FH is not curable, but it IS treatable. Now, more than ever, there are multiple treatment options for people with FH. Individuals with FH are not doomed to develop heart disease.  They can lead normal lives, if diagnosed early and treated adequately. High Lp(a) is not curable either, and treatments are in trials. For now, people with high Lp(a) are advised to control all other risk factors like quitting smoking, eating healthy, exercising, and keeping their LDL at normal levels.

The Family Heart Foundation Care Navigation Center can help everyone no matter where they are in their journey. Our expert care navigator can help you find a specialist with knowledge of your situation. Visit the Care Navigation Center now.