What causes familial hypertriglyceridemia?

Familial hypertriglyceridemia is caused by inherited genetic mutations that affect how your body produces and breaks down triglycerides. These mutations disrupt enzymes like lipoprotein lipase or alter proteins that help process fat particles in your blood, leading to excessive accumulation of triglycerides. Since this condition runs in families, having a parent with high triglycerides significantly increases your risk of developing it.

What is the best test for familial hypertriglyceridemia?

The Triglycerides blood test is the most important test for familial hypertriglyceridemia because it directly measures the amount of triglyceride fats in your bloodstream. This test is essential for diagnosis, as consistently elevated levels above 150 mg/dL, and especially above 500 mg/dL, indicate this genetic condition. Regular triglyceride testing helps monitor your cardiovascular risk and ensures treatment is working effectively, particularly when combined with other lipid measurements like LDL and HDL cholesterol levels.

When should I get tested for familial hypertriglyceridemia?

You should get tested if you have a family history of high triglycerides, early heart disease, or stroke. Testing is also important if you have unexplained abdominal pain, fatty deposits under your skin called xanthomas, or if your doctor notices cloudy or milky-looking blood during routine tests. Even without symptoms, annual triglyceride screening is recommended if close relatives have this condition, as early detection allows for preventive treatment before cardiovascular complications develop.

What are the symptoms of familial hypertriglyceridemia?

Familial hypertriglyceridemia often causes no noticeable symptoms until triglyceride levels become extremely high. When symptoms do appear, you might experience recurrent abdominal pain, pancreatitis attacks, small yellow fatty deposits on your skin called eruptive xanthomas, or a whitish ring around your cornea. Some people notice that their blood appears milky or cloudy when drawn for testing, which is a visible sign of severely elevated triglycerides.

Who is at risk for familial hypertriglyceridemia?

Anyone with a parent or sibling diagnosed with high triglycerides or early cardiovascular disease is at increased risk for familial hypertriglyceridemia. This genetic condition affects both men and women equally, though men typically develop elevated levels earlier in life. Your risk increases further if you have obesity, diabetes, consume excessive alcohol, eat a high-carbohydrate diet, or take certain medications like beta-blockers, diuretics, or steroids that can raise triglyceride levels.

What happens if familial hypertriglyceridemia is left untreated?

Untreated familial hypertriglyceridemia significantly increases your risk of developing heart disease, stroke, and atherosclerosis at a younger age than the general population. Extremely high triglyceride levels above 500 mg/dL can trigger acute pancreatitis, a painful and potentially life-threatening inflammation of the pancreas. Over time, persistently elevated triglycerides damage blood vessels, contribute to fatty liver disease, and accelerate the development of cardiovascular complications that could be prevented with proper monitoring and treatment.

Can familial hypertriglyceridemia be diagnosed with a blood test?

Yes, familial hypertriglyceridemia is diagnosed primarily through a blood test that measures your triglyceride levels after an overnight fast. A single elevated reading above 150 mg/dL suggests high triglycerides, but diagnosis of the familial form requires consistently elevated levels combined with family history of similar lipid abnormalities. Your doctor may order additional tests including a complete lipid panel to assess total cholesterol, LDL, and HDL levels, and sometimes genetic testing to confirm inherited mutations causing the condition.

How is familial hypertriglyceridemia treated?

Treatment combines lifestyle changes with medication to lower triglyceride levels and reduce cardiovascular risk. Dietary modifications include reducing refined carbohydrates and sugars, limiting alcohol consumption, increasing omega-3 fatty acids from fish or supplements, and losing weight if needed. Medications commonly prescribed include fibrates like fenofibrate, high-dose omega-3 fatty acids, niacin, or statins depending on your cholesterol levels. Regular exercise and avoiding smoking are also essential components of effective treatment.

How can I prevent familial hypertriglyceridemia?

Since familial hypertriglyceridemia is an inherited genetic condition, you cannot completely prevent it if you carry the responsible gene mutations. However, you can significantly reduce your triglyceride levels and cardiovascular risk through lifestyle modifications. Maintain a healthy weight, follow a low-carbohydrate Mediterranean-style diet rich in vegetables and healthy fats, exercise regularly for at least 30 minutes most days, limit alcohol consumption, and avoid smoking. Early detection through regular blood testing allows for preventive treatment before complications develop.

What natural remedies help with familial hypertriglyceridemia?

Natural approaches can help lower triglycerides when combined with medical treatment. Omega-3 fatty acids from fish oil supplements or eating fatty fish like salmon, mackerel, and sardines 2-3 times weekly have proven triglyceride-lowering effects. Limiting sugar and refined carbohydrates, replacing them with whole grains and fiber-rich foods, significantly reduces triglyceride production. Regular aerobic exercise like brisk walking, swimming, or cycling for 30-45 minutes daily helps your body process fats more efficiently. Plant sterols found in fortified foods and supplements may also provide modest benefits.

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Familial Hypertriglyceridemia Test

Familial Hypertriglyceridemia Blood Test

What is Familial hypertriglyceridemia?

Familial hypertriglyceridemia is a genetic disorder that causes abnormally high levels of triglycerides in the bloodstream. It is caused by inherited mutations that affect how the body produces and processes triglyceride-rich lipoproteins. The Triglycerides blood test is the most important test for diagnosis, as it directly measures the elevated fat levels that characterize this condition.

Written by Private MD Labs Medical Team

Last updated: December 30, 2025

Getting your blood test with us is easy, private & backed by the power of science.

Long story short:

In the test options, use the filters or search box to narrow your choices and find the test you want.
If you need a hand navigating through options, text our super friendly support team at 754-799-7833, and we'll provide tailored suggestions to help you find the ideal test.
Once your order is placed, we’ll create your doctor’s lab order remotely, without any need for you to make a trip to a doctor in person or to talk to the doctor. Expect to receive your doctor’s lab order right in your inbox. It will also be in your patient portal if you need to find it later. We’ll also include instructions regarding fasting and other requirements for your test. Your patient portal will be auto-created hassle-free during checkout.
If this is your first time ordering, you'll be prompted to create a password for instant login access to your patient portal. It's a quick way to conveniently access your orders and results whenever you want.
When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system.
Note that most lab locations don’t accept walk-ins, so it’s best to book an appointment in advance. Don’t worry – we’ll provide detailed instructions along the way.
You’ll get your results via email & SMS and dive into understanding your body better. Yup, that easy!

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