Familial Hypertriglyceridemia: Definition, Symptoms, Diagnosis

Familial Hypertriglyceridemia: Definition, Symptoms, Diagnosis

High triglycerides can have many causes, including weight, diet, and other factors. It can also be caused by genetics. When it’s an inherited condition, it’s known as familial hypertriglyceridemia.

Triglycerides are a type of waxy fat that’s found in your blood. Your body makes triglycerides and you also get it from the food you eat. When you eat, any extra calories and sugar that you don’t need at the time is converted into triglycerides and stored in fat cells. Later on, when you need energy, hormones will release the stored triglycerides.

You need a certain amount of triglycerides for energy, but having a level that’s too high can put you at risk for a variety of health issues.

In this article, we’ll look at high triglycerides caused by genetic factors, how this condition is diagnosed and treated, and how to lower your risk of complications.

Hypertriglyceridemia (or high triglycerides) results from overproduction of very low density lipoproteins (VLDL), which causes more triglycerides in the blood.

There are many potential causes of high triglycerides. Familial hypertriglyceridemia is specifically caused by genetics and is passed down in families. But other factors can influence the severity of your high triglycerides, such as your:

There are two types of hypertriglyceridemia:

  • one type involves your liver making too much VLDL
  • the other type involves your liver making a normal amount of VLDL which your body can’t break down

Familial hypertriglyceridemia is estimated to affect approximately 1 in every 500 people in the United States.

Familial hypertriglyceridemia usually doesn’t cause symptoms unless it’s severe enough to lead to another health condition.

Because it usually doesn’t cause symptoms, it’s especially important to know your family history.

Your family history

To understand your risk factor for familial hypertriglyceridemia, it’s important to know if one or more people in your family have:

  • high triglycerides
  • been diagnosed with heart disease, especially before age 50
  • had a stroke, especially before age 50

If your family history indicates that you may be at risk for high triglycerides, talk to your doctor about testing options. Knowing your family history will help your doctor make sure you get the right screening.

Even if you don’t have a family history of high triglycerides, this condition can occur without risk factors and without warning. Therefore, it’s important to get your triglyceride levels checked every 4 to 6 years.

If you have risk factors for high triglycerides, like smoking or being overweight, ask your doctor about getting your triglyceride levels checked more often.

To diagnose high triglycerides, your doctor will perform a physical exam and ask about symptoms you’re having, as well as your family history. Then they’ll order blood tests to check for elevated levels of triglycerides.

Your doctor may recommend that you fast for 9 to 12 hours before the test, in order to get an accurate reading of the fat levels in your blood. The test itself is a quick, regular blood draw.

If you have high triglycerides, your doctor may try to determine the underlying cause. For instance, high triglycerides may be caused by:

If you have a family history of high triglycerides or heart disease, but none of the above-mentioned underlying causes, your doctor will usually be able to diagnose familial hypertriglyceridemia based on your history.

It’s important to understand your triglyceride levels. This will help you monitor your condition and how it’s progressing.

Here’s a summary of how triglyceride levels are classified:

If not treated, high triglycerides can lead to complications, including:

  • Cardiovascular disease. While it’s not clearly understood how high triglyceride levels cause cardiovascular disease, it’s likely linked to high cholesterol and fat levels in the blood. This can block blood vessels and increase the risk of a heart attack or stroke.
  • Blood clots. High triglycerides can can raise your risk of blood clots, which can cause a heart attack or stroke, deep vein thrombosis (DVT), and pulmonary embolism (PE).
  • Fatty liver disease. When fat builds up in your liver it can lead to inflammation and liver damage.
  • Metabolic syndrome. Metabolic syndrome is a group of risk factors (which includes high triglycerides) that can increase your risk of cardiovascular disease, type 2 diabetes, and stroke.
  • Pancreatitis. The risk of pancreatitis increases as triglyceride levels increase. Your risk increases even further if you’ve had pancreatitis before.

If you have familial hypertriglyceridemia, it may be more difficult to lower your triglycerides because the condition is genetic. However, there are still lifestyle changes you can make to lower the risk of complications due to high triglycerides.

These changes include:

While lifestyle changes can be an effective way to keep high triglycerides under control, medication can also be prescribed as first-line treatment. This may be particularly helpful if your triglyceride levels are high, or if lifestyle changes don’t lower your triglyceride levels enough.

One of the most common types of medication for familial hypertriglyceridemia are fibrates. This medication is especially effective for people at a higher risk of pancreatitis.

Other supplements and medications that may help lower triglyceride levels include:

  • niacin, either as an immediate-release or extended-release version
  • statins, which are mostly used to reduce cholesterol, but also have been shown to have a small effect on triglycerides
  • omega-3 fatty acids, taken as fish oil supplements

When high triglycerides are caused by genetics, it’s known as familial hypertriglyceridemia. With this condition, there is too much of a type of fat (lipid) in your blood known as VLDL.

High triglyceride levels from any cause, whether due to genetics or lifestyle, can lead to complications such as cardiovascular disease, blood clots, or pancreatitis.

However, high triglyceride levels typically don’t have symptoms. That’s why it’s important to know your family history and to talk to your doctor about getting tested for familial hypertriglyceridemia if it runs in your family.

By making lifestyle changes and taking the right type of medication, you can help manage your high triglyceride levels and prevent further complications.


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