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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.

Causes

Familial hypertriglyceridemia is most likely caused by genetic variants 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

Your 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.

You may need to take medicine if your triglyceride levels stay high, even after making diet changes. Nicotinic acid, gemfibrozil, and fenofibrate will 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.

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, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 190.

Review Date: 5/8/2024

Reviewed By: Thomas S. Metkus, MD, Assistant Professor of Medicine and Surgery, Johns Hopkins University School of Medicine, Baltimore, MD. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.