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Is high cholesterol genetic?

Written on March 29, 2023 by Sendra Yang, PharmD, MBA. To give you technically accurate, evidence-based information, content published on the Everlywell blog is reviewed by credentialed professionals with expertise in medical and bioscience fields.

Table of contents

Cholesterol plays a vital role in maintaining the proper functioning of your cell’s membranes and the production of hormones [1]. Without cholesterol, your body and cells will not function properly. Your body can get cholesterol from foods that contain oils and fat, but your liver can also produce cholesterol. Cholesterol in your blood can be found in low-density lipoproteins (LDL) and high-density lipoproteins (HDL) [2]. The LDL form is often called the “bad cholesterol” because high levels can increase your risk of developing heart disease and stroke. HDL cholesterol, commonly referred to as the “good cholesterol,” helps balance the LDL cholesterol. When your cholesterol levels are high, your risk of developing cholesterol-related diseases can increase [1,2].

According to the CDC, nearly 94 million US adults age 20 or older have high cholesterol [3]. High cholesterol has no symptoms, so even if you have elevated cholesterol levels, you may not even be aware of it [3,4]. For this reason, high cholesterol can increase your risk of developing heart disease, stroke, or a heart attack without you necessarily knowing. Regularly visiting your healthcare provider and getting cholesterol levels tested can help you take preventive measures to keep your cholesterol at a healthy level. High cholesterol is a complex disease with a genetic basis, but it can also be related to lifestyle habits [5,6].

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The genetics of high cholesterol

People inherit their genes from their parents. Certain genetic mutations can cause a person’s genes to behave differently. This means that some genes you inherited from your parents can affect how your body processes cholesterol. Several genetic conditions can cause you to have high cholesterol levels. The two most common forms of inherited or family-related high cholesterol are called familial combined hyperlipidemia (FCH) and familial hypercholesterolemia (FH) [5,6].

What is familial combined hyperlipidemia (FCH)?

Familial combined hyperlipidemia is a metabolic disorder that causes an increase in blood fats such as triglycerides and cholesterols [7]. FCH can increase your risk of developing early cardiovascular diseases and cause abnormal changes in your blood lipid profiles [6]. Our current understanding of FCH is evolving, but what scientists know about FCH is that it is caused by multiple genes [8]. When FCH symptoms appear, a person may have chest pains, early coronary artery disease at a young age, or develop high cholesterol or triglyceride levels in their teens [6].

What is familial hypercholesterolemia (FH)?

Familial hypercholesterolemia is a genetic disorder that affects 1 in 250 people in the US. People with FH have unusually high levels of LDL cholesterols in their blood [9]. When your LDL and HDL levels are unbalanced, your risk of developing cardiovascular disease increases. Mutations in four genes called LDLR, APOB, PCSK9, and LDLRAP1 are associated with the majority of FH [10]. These genes play a function in cholesterol metabolism.

If you are concerned about FH, talking to your healthcare provider can help you make informed healthcare decisions. Some signs of FH in adults include LDL cholesterol over 190 mg/dL, swollen or painful Achilles tendon, or bumps around the knuckles or knees [11]. Your healthcare provider can refer you for genetic testing if you have a family history of high cholesterol. Genetic testing will test for mutations in the LDLR, APOB, and PCSK9 genes. If genetic testing confirms a mutation in one of these three genes, your healthcare provider will help you seek treatment. People with FH have a high risk of developing coronary artery disease at a young age and health problems from excess cholesterol buildup in the heart and blood vessels [5]. If you have FH, your healthcare provider can prescribe medication to help you control cholesterol levels and help you make lifestyle changes to keep your cholesterol levels healthy.

Your lifestyle choice and genetics both play a role in your cholesterol levels

If you have a family history of high cholesterol, there are lifestyle choices you can make to help you manage a healthy cholesterol level. Your genetics may predispose you to high cholesterol, but you can still make healthy lifestyle changes to lower your risk of developing cardiovascular disease. Healthy lifestyle changes that include a nutritious diet, regular exercise, not smoking, and maintaining a healthy weight contributed significantly to lowering the health risk of high cholesterol [12]. Eating a healthy diet with low saturated fats, maintaining a healthy weight, and exercising can also help you raise your LDL levels and lower your risk factors [13]. A healthy lifestyle change can benefit people with and without a genetic basis for high cholesterol.

High cholesterol is a complex disease with genetics and lifestyle risk factors. If you have questions or concerns about the health benefits of lowering your cholesterol levels or if you have a family history of high cholesterol, consult with a healthcare provider so you can get the answers you need.

At Everlywell, you can consult a healthcare provider via Virtual Care Visits if you have questions about your cholesterol. You can also consider a cholesterol test. The cholesterol test, with at-home sample collection, is a convenient screening if you are interested in learning about and monitoring your current cholesterol levels.

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References

  1. Zampelas A, Magriplis E. New insights into cholesterol functions: a friend or an enemy? Nutrients. 2019;11(7):1645. doi:10.3390/nu11071645. URL.
  2. About cholesterol. Centers for Disease Control and Prevention. URL. Published March 20, 2023. Accessed March 22, 2023.
  3. High cholesterol facts. Centers for Disease Control and Prevention. URL. Published March 20, 2023.Accessed March 22, 2023.
  4. Cholesterol myths and facts.Centers for Disease Control and Prevention. URL. Published October 24, 2022. Accessed March 22, 2023.
  5. Familial hypercholesterolemia. MedlinePlus. URL. Accessed March 22, 2023.
  6. Familial combined hyperlipidemia.MedlinePlus. URL. Accessed March 22, 2023.
  7. Gaddi A, Cicero AF, Odoo FO, Poli AA, Paoletti R; Atherosclerosis and Metabolic Diseases Study Group. Practical guidelines for familial combined hyperlipidemia diagnosis: an update. Vasc Health Risk Manag. 2007;3(6):877-886. URL.
  8. Brouwers MC, van Greevenbroek MM, Stehouwer CD, de Graaf J, Stalenhoef AF. The genetics of familial combined hyperlipidaemia. Nat Rev Endocrinol. 2012;8(6):352-362. doi:10.1038/nrendo.2012.15. URL.
  9. Medical options for people with familial hypercholesterolemia.Centers for Disease Control and Prevention. URL. Published February 10, 2022. Accessed March 22, 2023.
  10. Paththinige CS, Sirisena ND, Dissanayake V. Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. Lipids Health Dis. 2017;16(1):103. doi:10.1186/s12944-017-0488-4. URL.
  11. Familial hypercholesterolemia. Centers for Disease Control and Prevention. URL. Published February 10, 2022. Accessed March 22, 2023.
  12. Fahed AC, Wang M, Patel AP, et al. Association of the interaction between familial hypercholesterolemia variants and adherence to a healthy lifestyle with risk of coronary artery disease. JAMA Netw Open. 2022;5(3):e222687. doi:10.1001/jamanetworkopen.2022.2687. URL.
  13. Prevent high cholesterol. Centers for Disease Control and Prevention. URL. Published March 20, 2023. Accessed March 22, 2023.
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