For 1 in 250 people, a $15 lipid panel can be a life-changing test that improves health across generations. That’s because approximately 1 in 250 Americans has a condition known as familial hypercholesterolemia (FH), which causes genetically high cholesterol and early cardiovascular disease. If you or a loved one has severely elevated cholesterol (an LDL-C >190 mg/dL), it’s crucial to make a diagnosis and guide treatment. Equally important is encouraging family members, including children and
siblings, to get tested.

People with FH face increased cardiovascular risk due to lifelong exposure to high LDL cholesterol. Early diagnosis leads to early treatment, which decreases cardiovascular risk. This is how early detection and treatment allow patients with FH to live longer, healthier lives. Intervening early provides a chance to add years—or even decades—to your or a family member’s life. However, not everyone with FH develops cardiovascular disease, and progression rates vary. Risk stratification helps identify the highest-risk patients who require the most aggressive therapy. While family history, smoking, diabetes, and hypertension contribute to risk, advanced screening offers additional precision. Genetic testing, measuring Lp(a), and coronary artery calcium (CAC) scores are critical tools for identifying high-risk FH patients.

How do these tools work? Genetic testing detects common defects that cause severe hypercholesterolemia. A defect in the LDL receptor—the receptor that helps clear so- called “bad cholesterol” from the bloodstream—accounts for approximately 95% of
genetically proven FH cases. Lp(a) is similar to an LDL particle but carries an additional molecule that increases cardiovascular risk. A $25 test can identify patients with elevated Lp(a) levels. CAC scoring, performed with a low-radiation, non-contrast CT
scan of the chest, identifies calcified plaques in the coronary arteries. These plaques reveal “subclinical” cardiovascular disease and help physicians quantify risk.

For the highest-risk patients, I recommend a “full-court press” approach. Yes, the American Heart Association (AHA) and American College of Cardiology (ACC) recommend reducing LDL cholesterol (LDL-C) to below 100 mg/dL for individuals
without prior cardiovascular events. However, for high-risk patients, I believe “lower is better.” Patients with LDL receptor defects often fail to respond robustly to statins, which rely on upregulating LDL receptor activity. In these cases, we may combine statin therapy with ezetimibe to block cholesterol absorption and PCSK9 inhibitors—monoclonal antibodies that enhance LDL receptor recycling. By aggressively reducing LDL-C, we can significantly lower cardiovascular risk. Sometimes, this process begins with something as simple as a $15 lipid panel.

This is just one example of how I prioritize patient-centered care by blending the latest science with your unique needs and preferences.