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Familial hypertriglyceridemia

Definition

Familial hypertriglyceridemia is a common disorder passed down through families. It causes a higher-than-normal level of triglycerides (a type of fat) in a person's blood.

Alternative Names

Type IV hyperlipoproteinemia

Causes

Familial hypertriglyceridemia is most likely caused by genetic defects combined with environmental factors. As a result, the condition clusters in families. How severe the disorder is can vary based on sex, age, hormone use, and dietary factors.

People with this condition also have high levels of very low density lipoprotein (VLDL). LDL cholesterol and HDL cholesterol are often low.

In most cases, familial hypertriglyceridemia is not noticeable until puberty or early adulthood. Obesity, hyperglycemia (high blood glucose levels), and high levels of insulin are often present as well. These factors may cause even higher triglyceride levels. Alcohol, a diet high in carbohydrates, and estrogen use can make the condition worse.

You are more likely to have this condition if you have a family history of hypertriglyceridemia or heart disease before age 50.

Symptoms

You may not notice any symptoms. Some people with the condition may have coronary artery disease at an early age.

Exams and Tests

The health care provider will perform a physical exam and ask about your family history and symptoms.

If you have a family history of this condition, you should have blood tests to check very low density lipoprotein (VLDL) and triglyceride levels. Blood tests most often show a mild to moderate increase in triglycerides (about 200 to 500 mg/dL).

A coronary risk profile may also be done.

Treatment

The goal of treatment is to control conditions that can raise triglyceride levels. These include obesity, hypothyroidism, and diabetes.

Your provider may tell you not to drink alcohol. Certain birth control pills can raise triglyceride levels. Talk to your provider about your risk when deciding whether to take these medicines.

Treatment also involves avoiding excess calories and foods high in saturated fats and carbohydrates.

Chest pain
When people have chest pain, they're often concerned they're having a heart attack. I'm Dr. Alan Greene and I'd like to talk to you for a moment about the different kinds of chest pain and when it may be an emergency. It turns out, there are lots of different kinds of chest pain. In fact, almost everything in the chest can hurt in one way or another. Some of the causes are really nothing more than a minor inconvenience. Some of them though are quite serious, even life threatening. You can have chest pain sure from the heart, but also from pneumonia. You can have chest pain from asthma. You can have chest pain from a blood clot in the lungs. It can be from nothing more than a strain of some of the muscles between the ribs, or nerves. You can also have chest pain that comes from acid reflux of from a stomach ulcer, gallstones. Many, many things can cause chest pain. You want to call 911 if you are having sudden, crushing chest pain or if your chest pain radiates into the jaw or the left arm. You want to call 911 if your chest pain also causes shortness of breath, or dizziness, nausea, or vomiting. You want to call 911 if you know you have heart disease and you do occasionally have pain but your pain is getting significantly worse than it is ordinarily. Or comes on with less activity than it does otherwise. But whatever the cause of chest pain, unless you're sure what's causing it, it's worth contacting your physician to find out what may be going on. It's not a symptom to ignore.

You may need to take medicine if your triglyceride levels stay high even after making diet changes. Nicotinic acid, gemfibrozil, and fenofibrate have been shown to lower triglyceride levels in people with this condition.

Outlook (Prognosis)

Losing weight and keeping diabetes under control helps improve the outcome.

Possible Complications

Complications may include:

  • Pancreatitis
  • Coronary artery disease

Prevention

Screening family members for high triglycerides may detect the disease early.

Gallery

Chest pain
When people have chest pain, they're often concerned they're having a heart attack. I'm Dr. Alan Greene and I'd like to talk to you for a moment about the different kinds of chest pain and when it may be an emergency. It turns out, there are lots of different kinds of chest pain. In fact, almost everything in the chest can hurt in one way or another. Some of the causes are really nothing more than a minor inconvenience. Some of them though are quite serious, even life threatening. You can have chest pain sure from the heart, but also from pneumonia. You can have chest pain from asthma. You can have chest pain from a blood clot in the lungs. It can be from nothing more than a strain of some of the muscles between the ribs, or nerves. You can also have chest pain that comes from acid reflux of from a stomach ulcer, gallstones. Many, many things can cause chest pain. You want to call 911 if you are having sudden, crushing chest pain or if your chest pain radiates into the jaw or the left arm. You want to call 911 if your chest pain also causes shortness of breath, or dizziness, nausea, or vomiting. You want to call 911 if you know you have heart disease and you do occasionally have pain but your pain is getting significantly worse than it is ordinarily. Or comes on with less activity than it does otherwise. But whatever the cause of chest pain, unless you're sure what's causing it, it's worth contacting your physician to find out what may be going on. It's not a symptom to ignore.

References

Genest J, Mora S, Libby P. Lipoprotein disorders and cardiovascular disease. In: Libby P, Bonow RO, Mann DL, Tomaselli GF, Bhatt DL, Solomon SD, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 12th ed. Philadelphia, PA: Elsevier; 2022:chap 27.

Robinson JG. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 195.

Last reviewed May 8, 2022 by Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team..

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