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Familial hypertriglyceridemia

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.

The condition is not linked to major increases 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.

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 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 doctor or nurse will perform a physical exam and ask questions 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 doctor may tell you not to drink alcohol. Certain birth control pills can raise triglyceride levels. Talk to your doctor 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 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


  • Pancreatitis
  • Coronary artery disease

Prevention

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

References

Genest J, Libby P. Lipoprotein disorders and cardiovascular disease. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 9th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 47.

Semenkovich, CF. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 213.

Update Date: 5/20/2014

Updated by: Larry A. Weinrauch MD, Assistant Professor of Medicine, Harvard Medical School, Cardiovascular Disease and Clinical Outcomes Research, Watertown, MA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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