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Familial hypertriglyceridemia

Definition

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

The condition is not associated with a significant increase in cholesterol levels.

Causes

Familial hypertriglyceridemia is caused by a genetic defect, which is passed on in an autosomal dominant fashion. This means that if you get a bad copy of the gene from just one of your parents, you will have the condition.

Some people with this condition also have high levels of very low density lipoprotein (VLDL). The reason for the rise in triglycerides and VLDL is not understood.

Familial hypertriglyceridemia does not usually become noticeable until puberty or early adulthood. Obesity, hyperglycemia (high blood glucose levels), and high levels of insulin are often also present and may cause even higher triglyceride levels.

Familial hypertriglyceridemia occurs in about 1 in 500 individuals in the United States. Risk factors are a family history of hypertriglyceridemia or a family history of heart disease before the age of 50.

Symptoms

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

Exams and Tests

People with a family history of this condition should have blood tests to check very low density lipoprotein (VLDL) and triglyceride levels. Blood tests usually 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 such as obesity, hypothyroidism, and diabetes.

Your doctor may tell you not to drink alcohol. Because certain birth control pills can raise triglyceride levels, you should carefully discuss their use with your doctor.

Treatment also involves avoiding excess calories and foods high in saturated fats and carbohydrates. See also: Heart disease and diet

If high triglyceride levels persist despite diet changes, medication may be needed. Nicotinic acid, gemfibrozil, and fenofibrate have been shown to lower triglyceride levels in people with this condition.

Outlook (Prognosis)

Persons with this condition have an increased risk of coronary artery disease and pancreatitis.

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

Possible Complications

  • Pancreatitis
  • Coronary artery disease

Prevention

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

References

Mahley RW, Weisgraber KH, Bersot TP. Disorders of lipid metabolism. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 36.

Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 217.

Review Date: 5/23/2010
Reviewed By: David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc., and David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine.
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