Heart disease is the leading cause of death in the United States, and your family history could be your biggest risk factor. Robert Fishberg, MD, a cardiologist with Atlantic Health System, discusses the role of genetics in two common heart conditions, diagnostic and treatment options, as well as new therapies on the horizon.
Familial hypercholesterolemia (FH) is an inherited condition that causes coronary heart disease early in life, typically before the age of 55 for men and 65 for women. Because the disease changes how the body clears cholesterol, it drastically increases the risk for an early heart attack. In fact, one in five heart attacks before the age of 45 are due to FH.
People with FH have very high levels of low-density lipoprotein (LDL) cholesterol, which can build up on artery walls and in the bloodstream. Thankfully, people with FH have many treatment options available to help them live longer, healthier lives and reduce their risk of a heart attack.
Unfortunately, an estimated 90% of people with FH are unaware that they have the condition. Anyone with a family history of early heart disease should be screened for FH using a simple blood test measuring LDL cholesterol. If LDL levels are over 190 mg/dl, FH can be confirmed with a sputum test. Because FH is a genetic disease, it can affect entire families. Dr. Fishberg stresses the importance of screening all family members of people diagnosed with FH, especially children.
“Children with familial hypercholesterolemia who are treated at an early age most likely will never experience a cardiac event as an adult,” he says. “When it comes to treating high LDL levels in people with FH, it’s not just ‘lower is better,’ it’s also ‘younger is better’.”
High lipoprotein(a), also referred to as Lp(a), is another common genetic condition that can lead to heart attack, stroke, vascular disease and aortic stenosis. As many as one in five people have inherited high Lp(a) levels, and the condition is more common in people who also have FH. Because high Lp(a) levels can happen without symptoms and some people even have otherwise normal cholesterol levels, Dr. Fishberg says that all adults should have their Lp(a) levels measured at least once.
There are currently no effective methods available to treat Lp(a) and people who have the condition must work diligently to lower any additional risk factors for heart disease. This includes eating a heart-healthy diet, getting plenty of exercise, quitting smoking and controlling diabetes, as well as maintaining a healthy blood pressure and lowering cholesterol levels.
Dr. Fishberg is optimistic about new treatments on the horizon, and clinical trials are currently in progress to identify effective treatment options for people with high Lp(a) levels. The HORIZON Lp(a) and the OCEAN(a)-Outcomes are both Phase 3 trials that are testing the theory that lowering plasma Lp(a) levels will lead to a reduced rate of recurring cardiovascular events.
Who should be screened?
Many different genes affect the heart. If you have a family history of early heart disease, Dr. Fishberg says that it’s important to work with your primary care doctor or a cardiologist to determine whether you might be at an increased risk for a cardiovascular event due to an inherited condition. Many genetic heart diseases require the expertise of a cardiologist to manage the condition and lower your risk of a heart attack or other cardiac event.
“When it comes to genetic heart disease, it’s not just about you. It’s also about your family,” says Dr. Fishberg. “It’s essential that patients advocate for their care. You need to understand your risk, know your numbers and ask about additional screening if you have relatives who develop heart disease early in life.”
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