Health beat: Genomics and heart disease

Heart disease is the leading cause of death and a major cause of disability in the United States. Nearly 600,000 Americans die of heart disease annually. This represents almost 25 percent of all deaths in the United States. To raise awareness of the disease, February has been recognized as American Heart Month since 1963.

Some medical conditions (such as high cholesterol, high blood pressure and diabetes) and lifestyle factors (such as an unhealthy diet, physical inactivity and alcohol or tobacco use) can increase the risk of developing heart disease. Having close biological relatives with heart disease can also increase the risk of developing heart disease and can affect screening recommendations.

The U.S. Preventive Services Task Force, an independent group of national experts, strongly recommends cholesterol screening for men 35 and older. For people who have a family history of early heart disease (i.e., before age 50 in male relatives or age 60 in female relatives), the task force recommends cholesterol screening beginning at age 20 for both women and men. Health care providers can help patients evaluate their family histories to determine a screening approach that is best for them.

Some families have a common genetic disorder called familial hypercholesterolemia. This disorder causes elevated levels of low-density lipoprotein (or LDL) cholesterol, which can increase a person's risk for premature coronary heart disease and death. An estimated 600,000 people in the United States have familial hypercholesterolemia. It remains underdiagnosed and undertreated.

However, this disorder can be effectively identified using cascade testing, also known as family tracing. Early detection and treatment can help reduce the risk for coronary heart disease and death in people with the disorder.