Could You Have Inherited High Cholesterol?

Medically reviewed in September 2021

When was the last time you had your cholesterol levels checked? Just as important – and this question may surprise you -- have you ever had your childrens’ cholesterol levels tested? 

If you have a first-degree relative with premature heart disease (meaning a heart attack in a man less than 45-years-old or a woman less than 55-years-old) it is time for you and your kids to see your doctors, tell them about your family history and have your cholesterol checked. There is a chance that you have familial hyperlipidemia – a genetic defect that increases production of “bad” LDL cholesterol in the blood. Taking these steps could literally protect you and your family members from premature heart disease and death.  

Signs of Inherited High Cholesterol
This month, the National Lipid Association has launched an initiative, Are You the One? bringing awareness to this disease. One in 300 to 500 people will have one gene mutation for familial hyperlipidemia. This results in total cholesterol levels between 350 and 550 mg/dl.  The form of FH with two gene mutations only occurs in 1 in 1,000,000, resulting in cholesterol levels between 650 and 1000 mg/dl.  Both forms of these mutations put patients at high risk for premature heart disease.

Learn more about Are You the One at learnyourlipids.com.

If aggressively treated, heart disease can be avoided but the key is to discover it early in life. The easiest way to do that is to share any family history of heart disease, have an exam by your physician and have a simple cholesterol panel done (a blood test that looks at your “good” HDL cholesterol, “bad” LDL cholesterol and triglyceride levels).

What does a physical exam have to do with cholesterol? FH may result in cholesterol deposits on the skin and in the eye. A physician can easily detect these on examination.  With the cholesterol blood test, the following results indicate FH 80% of the time:

  • LDL cholesterol >250 mg/dl in a patient 30 or older OR
  • LDL cholesterol > 220 mg/dl for patients between 20 and 29 OR
  • LDL cholesterol >190 mg/dl in a patient under age 20 

Although it is relatively easy to detect and treat this problem, many people are going undiagnosed. That is why it is so important to have your children screened between the ages of 9 and 11. If you have a family history of hyperlipidemia and heart disease, the recommendation is to test children by the age of 2.  All patients should be tested by the age of 20.

The treatment for FH is the same as that for high cholesterol that is not hereditary – it’s  just started earlier in life and more aggressively, with the goal of reducing LDL cholesterol by 50%. 

How to Manage Familial Hyperlipidemia
A heart-healthy diet, such as the Mediterranean diet (or a vegan diet, for those who want to be as aggressive as possible), along with exercise are the first lines of treatment. Statins, as tolerated, are the medications that are generally recommended.

Learn more about FH treatments
It is really important to be proactive about your health. For those with familial hyperlipidemia it is essential. The earlier it is detected and treated, the less likely heart disease will develop. Be smart and take care of your heart health -- and your children’s.

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