This post was authored by Paul Chew, M.D., Senior Vice President, Group Chief Medical Officer and Head of North America R&D Hub at Sanofi.
On Friday, May 15, the United Nations and people around the world honor “International Day of Families.” The purpose of this day is to raise awareness of the social, economic and demographic issues affecting families worldwide. In honor of this day, and as a cardiologist, I would like to take a moment to address the importance of healthy families and specifically, family heart health.
People who have a family history of early heart attack or stroke, have experienced a cardiovascular event, or have high levels of “bad” cholesterol could be at risk for familial hypercholesterolemia (FH).
FH is an inherited condition associated with high levels of “bad” cholesterol and may predispose a person to premature cardiovascular disease (CVD).1 People with FH are unable to process the body’s natural supply of cholesterol in the liver, leading to very high levels of “bad” cholesterol.2 High levels of “bad” cholesterol, otherwise known as low-density lipoprotein cholesterol or LDL-C, is a major risk factor for plaque build-up inside the artery wall (atherosclerosis), which can lead to CVD.3 Once one family member has been diagnosed, or if diagnosis is uncertain, genetic testing can help confirm diagnosis and identify affected relatives.4
There are two types of FH: heterozygous familial hypercholesterolemia (HeFH), which is inherited from one parent with FH, and represents the majority of people with FH; and homozygous familial hypercholesterolemia (HoFH), which is inherited from both parents who have FH, and occurs in a minority of people with FH.5
Based on an estimated prevalence of one in 200 to one in 500, approximately 14-34 million people worldwide are affected with HeFH.6 Unfortunately, up to 80 percent of those affected remain undiagnosed in most countries throughout the world.7 People with untreated FH have about a 20 times greater risk of developing early heart disease.8
Diagnosis usually begins with a blood test to determine levels of total cholesterol, including “bad” cholesterol, “good” cholesterol, referred to as high-density lipoprotein-cholesterol or HDL-C, and triglycerides. Early diagnosis for FH is an important first step to help manage the condition.
While FH cannot be cured, options are available to help manage the condition by lowering the elevated levels of “bad” cholesterol. Studies have shown “bad” cholesterol can be reduced through changes in lifestyle, diet and medication; for example, getting 30 minutes of daily activity at least five times a week and quitting smoking.9,10 Smoking itself causes additional damage to blood vessels and doubles the risk of a heart attack.9
In terms of diet modifications, eating less saturated fat or replacing saturated fat with unsaturated fats could have a positive impact on cholesterol levels and overall heart health. Limiting food and drink high in sugar and alcohol and eating more food containing fiber, vegetables and fruit also could have a positive impact on cholesterol levels.10
Several types of medicines are prescribed to treat high levels of “bad” cholesterol associated with FH; medicines that can be given alone or in combination. Statins, the most widely prescribed and used medicines for high cholesterol, have been shown to reduce “bad” cholesterol and reduce the risk of suffering heart attack and stroke.11 In addition, new investigational medicines are being studied in people with FH.
Before making any changes or exploring treatment options, find out your family heart history, uncover if you or your family may be at risk for FH and talk to your doctor about the need for diagnostic screening.
- Goldberg AC, Hopkins PN, Toth PP, et al. Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients. J Clin Lipidol. 2011;5: 51-58.
- FH Foundation. What is FH? (Factsheet). Available from http://thefhfoundation.org/about-fh/what-is-fh/. Last accessed 29 January 2015.
- Familial Hypercholesterolaemia. Patient UK. Available from http://www.patient.co.uk/health/familial-hypercholesterolaemia. Last accessed 5 January 2015.
- Klose G, Laufs U, März W, et al. Familial Hypercholesterolemia: Developments in Diagnosis and Treatment. Deut Ärzt Intl. 2014;111(31-32):523–529.
- FH Foundation. What are the risks with FH? Available from http://thefhfoundation.org/about-fh/what-are-the-risks-with-fh/. Last accessed 29 January 2015.
- Børge G. Nordestgaard, M. John Chapman, 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. European Heart Journal. Aug 2013;DOI:10.1093/eurheartj/eht273
- Goldberg AC, Hopkins PN, Toth PP, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients. J Clin Lipidol. 2011;5(3 suppl):S1-S8.
- What are the risks with FH? FH Foundation. Available from http://thefhfoundation.org/about-fh/what-are-the-risks-with-fh/. Last accessed 12 December 2014.
- Tobacco: totally avoidable risk factor of CVD. World Heart Fed. Available from http://www.world-heart-federation.org/press/fact-sheets/tobacco-totally-avoidable-risk-factor-of-cvd/. Last accessed 29 January 2015.
- National Lipid Association. Familial Hypercholesterolemia. Available from https://www.lipid.org/sites/default/files/fh.pdf. Last accessed 29 January 2015.
- Scirica MB, Cannon CP. Cardiology Patient Page Treatment of Elevated Cholesterol. Circulation AHA. 2005;111: e360-e363.