Familial hypertriglyceridemia

• Causes, incidence, and risk factors

  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 frequently associated with this condition and make 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.

• Signs 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.

  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.

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

• Expectations (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.

• Complications
  • Pancreatitis
  • Coronary artery disease
• Prevention

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

Review Date: 1/23/2008

Reviewed By: Glenn Gandelman, MD, MPH, Assistant Clinical Professor of Medicine, New York Medical College, Valhalla, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.