Familial Hyperlipidemia with Elevated Lipoprotein(a)
What is Familial Hyperlipidemia with Elevated Lipoprotein(a)?
Familial hyperlipidemia with elevated Lipoprotein(a) is an inherited condition that causes high levels of a specific type of cholesterol particle in your blood. Lipoprotein(a), often written as Lp(a), is a sticky form of LDL cholesterol that can build up in your artery walls. Unlike regular cholesterol, your Lp(a) level is determined almost entirely by your genes, not your diet or lifestyle.
When Lp(a) levels rise above 50 mg/dL or 125 nmol/L, your risk of heart attack and stroke increases significantly. This happens because Lp(a) particles promote plaque formation in arteries and increase blood clotting. Many people with this condition have normal cholesterol levels on standard tests, which means the elevated Lp(a) often goes undetected for years.
This condition affects about 20% of the population, though most people don't know they have it. Because it runs in families, you're more likely to have elevated Lp(a) if a parent or sibling does. Early detection through blood testing helps you and your doctor take steps to protect your heart health before problems develop.
Symptoms
- Usually no symptoms until heart disease develops
- Chest pain or pressure, especially during physical activity
- Shortness of breath with exertion
- Fatty deposits around the eyes, called xanthelasma
- Early heart attack, often before age 55 in men or 65 in women
- Stroke symptoms like sudden weakness or speech changes
- Family history of early heart disease
Most people with elevated Lp(a) feel completely normal for decades. The condition is silent until it causes cardiovascular events. This makes blood testing the only reliable way to detect it early.
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Causes and risk factors
Elevated Lipoprotein(a) is caused by variations in the LPA gene you inherit from your parents. If one parent has high Lp(a), you have a 50% chance of inheriting it. Your Lp(a) level is set by your genes and remains fairly constant throughout your life. Diet, exercise, and most cholesterol medications have little to no effect on Lp(a) levels, which makes this condition different from other forms of high cholesterol.
Certain ethnic groups have higher rates of elevated Lp(a), including people of African, South Asian, and Hispanic descent. Other risk factors that can worsen the cardiovascular impact include smoking, high blood pressure, diabetes, obesity, and having other forms of high cholesterol. While you can't change your Lp(a) level, managing these other risk factors becomes even more important when Lp(a) is elevated.
How it's diagnosed
Familial hyperlipidemia with elevated Lp(a) is diagnosed with a simple blood test that measures Lipoprotein(a) levels. This test is not part of standard cholesterol panels, so you need to specifically request it or add it to your blood work. Testing is recommended if you have a family history of early heart disease, if you've had a heart attack or stroke at a young age, or if your cardiovascular risk seems higher than your cholesterol numbers suggest.
Rite Aid offers Lipoprotein(a) testing as an add-on to our preventive health panel. You can get tested at any Quest Diagnostics location near you. Results above 50 mg/dL or 125 nmol/L indicate elevated risk. Your doctor may also order additional tests to check for other cardiovascular risk factors and determine the best treatment approach for your situation.
Treatment options
- Aggressive management of LDL cholesterol with statins or PCSK9 inhibitors
- Low-dose aspirin to reduce clotting risk in some patients
- Newer therapies targeting Lp(a) reduction, currently in clinical trials
- Strict blood pressure control with medication if needed
- Smoking cessation, as smoking greatly increases cardiovascular risk
- Heart-healthy diet rich in vegetables, fruits, whole grains, and omega-3 fatty acids
- Regular aerobic exercise, at least 150 minutes per week
- Maintaining a healthy weight
- Managing diabetes and blood sugar levels if present
- Regular cardiovascular monitoring with your doctor
Need testing for Familial Hyperlipidemia with Elevated Lipoprotein(a)? Add it to your panel.
- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
Lipoprotein(a) is a sticky type of cholesterol particle that promotes plaque buildup in arteries and increases blood clotting. Unlike regular cholesterol, Lp(a) levels are determined by your genes and don't respond much to diet or exercise. High Lp(a) significantly raises your risk of heart attack and stroke, even if your other cholesterol levels look normal.
Regular high cholesterol is usually caused by diet, lifestyle, and genetics combined, and it responds well to lifestyle changes and statin medications. Familial hyperlipidemia with elevated Lp(a) is almost entirely genetic, and your Lp(a) level stays constant throughout life. Standard cholesterol-lowering strategies don't reduce Lp(a), so treatment focuses on aggressively managing other cardiovascular risk factors instead.
You should consider testing if you have a family history of early heart disease, if a close relative has elevated Lp(a), or if you've had a heart attack or stroke at a young age. Testing is also recommended if your cardiovascular risk seems higher than expected based on standard cholesterol tests. Some experts recommend everyone get tested at least once, since Lp(a) levels don't change over time.
Unfortunately, diet and exercise have little to no effect on Lp(a) levels, which are set by your genes. However, healthy lifestyle habits remain crucial because they help manage other cardiovascular risk factors like blood pressure, regular cholesterol, and blood sugar. When you have elevated Lp(a), keeping these other factors in check becomes even more important for protecting your heart.
Lp(a) levels above 50 mg/dL or 125 nmol/L are considered elevated and indicate increased cardiovascular risk. Risk increases progressively as levels rise higher. Some research suggests that even levels above 30 mg/dL may carry some increased risk, though the greatest concern is for levels above 50 mg/dL.
If you have elevated Lp(a), each of your children has a 50% chance of inheriting it from you. The gene that controls Lp(a) follows an autosomal dominant pattern, meaning just one copy of the variant gene causes elevated levels. Testing your children can help identify elevated Lp(a) early so preventive measures can begin.
Currently, no medications are approved specifically to lower Lp(a), though newer therapies are in clinical trials and show promise. Some treatments like PCSK9 inhibitors and high-dose niacin can lower Lp(a) by 20 to 30%, but this may not be enough for very high levels. Treatment focuses on aggressively reducing LDL cholesterol and managing all other cardiovascular risk factors to offset the increased risk from elevated Lp(a).
Because Lp(a) levels are genetically determined and remain stable throughout life, you typically only need to test once. If your first test shows normal levels, repeat testing is usually not necessary. However, if you have elevated Lp(a), your doctor will want to monitor your other cardiovascular risk factors more frequently to guide treatment.
No, elevated Lp(a) increases your risk but does not guarantee you will have a heart attack or stroke. Many factors affect cardiovascular risk, including blood pressure, cholesterol levels, smoking, diabetes, family history, and lifestyle. By identifying elevated Lp(a) early and managing all modifiable risk factors aggressively, you can significantly reduce your chances of cardiovascular events.
Yes, you can significantly reduce your risk through aggressive management of other cardiovascular risk factors. Focus on keeping your LDL cholesterol very low with medication, maintaining healthy blood pressure, avoiding smoking, exercising regularly, and eating a heart-healthy diet. Work closely with your doctor to create a personalized prevention plan that addresses your total cardiovascular risk profile.