Hereditary Cholesterol: Why You Need To Test For It

Understanding your family medical history, especially cholesterol, is crucial in helping to prevent heart disease. 

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There are two specific conditions you should consider when thinking about family history and genetic predisposition to heart disease. By doing early prevention and genetic testing, you can cultivate a lifestyle that reduces your risk.  But, when it comes to family history with the markers we’re discussing below, medication is essential to prevent heart disease and stroke. Getting a proper diagnosis is critical.

Your health care provider may order the test if you have certain signs or health conditions that mean you have a high risk for blockages in your arteries, such as:

• A family health history of early heart or blood vessel disease (before age 55 for a father or brother and before age 65 for a mother or sister)
• High LDL cholesterol (greater than 190 mg/dL)
• Heart or blood vessel disease throughout the family
• Family history of high cholesterol at early ages

Familial hypercholesterolemia is an inherited disorder in which it is more difficult for your body to remove low-density lipoprotein (LDL) cholesterol from your blood. Cholesterol then builds up in your arteries, leading to plaque in the arteries.  These blockages can lead to a heart attack or stroke. It’s found most frequently in those who are of French Canadian, Ashkenazi Jewish, Lebanese or Afrikaner (a South African ethnic group) descent.  It is important to get this diagnosis early and be started on cholesterol lowering medication.

Lipoprotein(a) is a type of LDL cholesterol, but whose particles are “sticky,” meaning they tend to form plaque in the arteries greater than the LDL particles.  This is a genetic marker and is not modifiable by diet and exercise, but knowing your Lp(a) number is critical.  This marker is recommended to be checked at least once in all people, but must be checked for those who have a strong family history of heart attack and stroke.

 If you have an elevation of this number you are at greater risk for heart attacks and strokes, and more thorough screening tests should be done (like a coronary artery calcium score and a carotid doppler).  If your LDL cholesterol is high and your Lp(a) is high, it will be recommended that you go on a cholesterol lowering medication, like a statin. Medications to lower the Lp(a) are still in research trials.

Request the Right Bloodwork for Your Family History

Testing for familial hypercholesterolemia

Genetic testing for familial hypercholesterolemia (FH) looks for inherited genetic changes in three different genes (LDLR, APOB, and PCSK9) known to cause FH. If your doctor suspects that you have FH or a family member has been diagnosed with FH, your doctor may refer you for genetic counseling and testing for FH. Finding a mutation is not required for an FH diagnosis. About 20-40% of people with FH have negative genetic testing results. Your cholesterol levels, family health history, and physical signs can be enough for an FH diagnosis. If you have FH, medical options are available!

Testing for Lipoprotein(a) 

For those with a strong family history of heart disease, an Lp(a) should be checked at  age 20. It is said that everyone should have this marker checked at least once by their doctors to ensure that they do not have this as a risk factor.  Depending on the lab, the Lp(a) could be measured differently. Make sure you look at the values of the lab to determine if yours is normal. It is either measured in mg/dL or nmol/L. Normal values are less than 30 mg/dL or less than 1.7 nmol/L.

Remain proactive in your health care. Remember to take care of your heart. Heart care truly is the new self care.