With familial hypercholesterolemia (FH), people are born with a predisposition to have high cholesterol—no matter what lifestyle habits they later choose. Genetic high cholesterol happens when parents pass down certain genes to their children.
FH can be hard to detect if you don’t know what to look for. In our Preventive Cardiology and Apheresis Clinic, our FH providers have the expertise to identify and effectively manage it. From advanced genetic tests to the latest cholesterol medications, we have everything you need to live a long, fulfilling life.
What Is FH Disease?
Familial hypercholesterolemia is a genetic cholesterol disorder. A mutation (change) in one of three genes (LDLR, APOB and PCSK9) causes FH and is passed down through families.
In FH, the body can’t properly regulate or remove low-density lipoprotein (LDL), or “bad,” cholesterol. As a result, people have too much LDL cholesterol in their blood, often despite healthy diets and exercise.
The high levels of LDL cholesterol caused by FH increase the risk for coronary artery disease and heart attacks. That’s why early detection is so critical. By age 40, many people with untreated FH already have plaque buildup in their arteries.
Coronary artery disease happens when plaque (fatty deposits of cholesterol, calcium and other substances) builds up in the arteries. This buildup can block blood flow to the heart, damaging it over time.
About FH in Lancaster County
FH affects about one in 250 people in the U.S. In Lancaster County, that ratio is much higher because Pennsylvania Dutch, Amish and Mennonite communities carry these genetic mutations. Among the Penn Medicine Lancaster General Health population, one in 69 people has FH.
Familial Hypercholesterolemia Care: The Penn Medicine Lancaster General Health Advantage
Our FH experts include cardiologists and nurse practitioners with The Heart Group of Lancaster General Health who specialize in the early diagnosis and treatment of FH disease. We also participate in research and clinical trials that improve FH care. For example, one of our studies uncovered the specific gene mutation affecting most of our patient population.
Our active role in heart and vascular clinical trials and research means you have access to the latest, most effective cholesterol medications—sometimes before they are available elsewhere. These treatments include new injectable medications with fewer side effects than statins and drugs for people who don’t respond to other treatments. .
We are passionate about increasing FH awareness and improving FH outcomes across Central Pennsylvania. Through public outreach initiatives, we teach community providers how to identify FH to better manage cardiovascular disease. We’re dedicated to helping you do the same, so that you and your family can live healthy, happy lives.
Diagnosing FH
The FH gene mutation common in our area can be hard to identify. It tends to cause LDL cholesterol numbers that are lower than doctors expect in familial hypercholesterolemia.
Our extensive experience helps us identify FH cases that others may miss. To diagnose familial hypercholesterolemia, we perform thorough evaluations that include:
- Family history: We look closely at your family’s medical history. Not everyone knows when there’s FH in their family, so this process involves some detective work. Our experts are skilled at finding the family connections and conditions, such as vascular-related dementia, that may signal the presence of FH.
- Physical exam: Some people show physical signs of high cholesterol, including visible cholesterol in their eyes and growths or bumps on the knuckles, knees or elbows.
- Heart imaging: We use cardiac CT scans to measure the amount of calcium present in the heart’s arteries. This number is called a calcium score. Cardiac CT scans use X-rays and computer technology to take detailed images of your arteries. Your calcium score helps us determine your risk for heart disease and future heart attacks. It can also help us determine if you would benefit from medications to lower LDL cholesterol.
- Lipid tests: We use advanced cholesterol testing to get a complete picture of your cholesterol levels. We also look at overall trends in your cholesterol numbers, like how certain medications affect them.
- Genetic testing: A simple blood test can identify the presence of genetic mutations that cause FH. We may also test for a type of LDL cholesterol—lipoprotein(a)—that is associated with hereditary high cholesterol and heart disease. This test is not routinely checked with basic lipid testing.
Treating Familial Hypercholesterolemia
We help you manage FH so you and your family can live the healthiest life possible. We also provide the resources, education and counseling needed to make important health decisions.
Familial hypercholesterolemia treatment includes:
- Education around your personal risk factors, including videos and in-person counseling
- Help making healthy lifestyle changes, including increasing exercise and better nutrition
- Medications to lower LDL cholesterol
Heart Risk Assessment
Learn your heart age and reduce your risk for cardiovascular disease by taking our Heart Risk Assessment.
Peripheral Artery Disease Risk Profiler
Discover your risk for peripheral artery disease (PAD)—and steps you can take to stay healthy—by taking our Peripheral Artery Disease Risk Profiler.
Make an Appointment
To schedule a preventive cardiology appointment or consultation—including e-consults—call 717-544-8300.