Metabolic

Familial hypertriglyceridemia: definition, symptoms, diagnosis

High triglycerides can be caused by many factors, including weight, diet, and other factors. It can also be genetic. If the condition is inherited, it is known as familial hypertriglyceridemia.

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

You need a certain amount of triglycerides for energy, but too high a value can put you at risk for a variety of health problems.

In this article, we’ll look at high triglycerides caused by genetic factors, how this condition is diagnosed and treated, and how you can reduce the risk of complications.

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

There are many possible causes of high triglycerides. Familial hypertriglyceridemia is genetically determined and is passed on in families. But other factors can also affect the severity of your high triglycerides, such as:

There are two types of hypertriglyceridemia:

  • In one type, your liver makes too much VLDL
  • the other type involves your liver making a normal amount of VLDL that your body cannot break down

It is estimated that familial hypertriglyceridemia affects about 1 in 500 people in the United States.

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

Since 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
  • who have been diagnosed with heart disease, especially before the age of 50
  • had a stroke, especially before the age of 50

If your family history suggests that you may be at risk for high triglycerides, talk to your doctor about testing options. Knowing your family history can help your doctor make sure you are getting the correct screening.

Even if you don’t have high triglycerides in the family, this condition can occur without any risk factors and without warning. So it’s important to have your triglyceride levels checked every 4 to 6 years.

If you have risk factors for high triglycerides, such as smoking or being overweight, ask your doctor about more frequent checks of your triglyceride levels.

To diagnose high triglycerides, your doctor will do a physical exam and ask about your symptoms and family history. Then they will order blood tests to check for increased triglyceride levels.

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

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

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

Understanding your triglyceride levels is important. This will help you monitor your condition and its progress.

Here is a summary of the classification of triglyceride levels:

If left untreated, high triglycerides can lead to complications, including:

  • Cardiovascular disease. While it is not clear how high levels of triglycerides cause cardiovascular disease, it is likely related to high levels of cholesterol and fat in the blood. This can block blood vessels and increase the risk of a heart attack or stroke.
  • Blood clots. High triglycerides can increase the risk of blood clots, which can cause a heart attack or stroke, deep vein thrombosis (DVT), and pulmonary embolism (PE).
  • Oily liver disease. When fat builds up in your liver, it can cause inflammation and liver damage.
  • Metabolic syndrome. Metabolic syndrome is a group of risk factors (including high triglycerides) that can increase your risk of cardiovascular disease, type 2 diabetes, and stroke.
  • Pancreatitis. The risk of pancreatitis increases as the triglyceride level rises. Your risk increases if you have had pancreatitis in the past.

If you have familial hypertriglyceridemia, lowering your triglycerides may be more difficult 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, medications can also be prescribed as first-line treatment. This can be especially helpful if your triglyceride levels are high or if lifestyle changes don’t lower your triglyceride levels enough.

One of the most common drugs for familial hypertriglyceridemia is fibrates. This drug is especially effective for people at higher risk of developing pancreatitis.

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

  • Niacin, either as an immediate or extended release version
  • Statins, mainly used to lower cholesterol but also have little effect on triglycerides
  • Omega-3 fatty acids taken as a fish oil supplement

If high triglycerides are genetically determined, one speaks of familial hypertriglyceridemia. With this condition, there is too much fat (lipid) in your blood known as VLDL.

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

However, high levels of triglycerides usually have no symptoms. Because of this, it is important to know your family history and to speak to your doctor about a test for familial hypertriglyceridemia, if your family has it.

By changing your lifestyle and taking the right kind of medication, you can control your high triglyceride levels and prevent further complications.

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