Familial hypertriglyceridemia

Definition
Familial hypertriglyceridemia is a common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis.

Causes, incidence, and risk factors

This disorder is caused by a gene mutation which is passed on in an autosomal dominant fashion. This means that if you get the gene from just one of your parents—you will have the condition. The gene mutation for familial hypertriglyceridemia causes a mild to moderate elevation of triglycerides in the blood, though exactly how it does so is unknown. At this time, the gene or genes that cause familial hypertriglyceridemia have not been identified.

The condition does not usually manifest itself until puberty or early adulthood. Obesity, hyperglycemia (high blood glucose levels), and high levels of insulin are frequently associated with this condition.

Familial hypertriglyceridemia occurs in about 1 in 300 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
May manifest as premature coronary artery disease.

Signs and tests

• mildly to moderately elevated coronary risk profile - triglycerides
  
• elevated VLDL

The goal of treatment is to control exacerbating conditions, such as obesity, hypothyroidism, and diabetes wherever possible. Alcohol use should be discontinued. Oral contraceptive use should be reviewed and the specific type chosen carefully. Restriction of excess calories and reduction of saturated fats in the diet is indicated.

If high triglyceride levels persist with maximum dietary treatment, drug therapy should be started. Nicotinic Acid or gemfibrozil are drugs that have effectively reduced triglycerides in people affected with familial hypertriglyceridemia.

Expectations (prognosis)

There is an increased risk of coronary artery disease and pancreatitis with this disorder. Weight loss and control of diabetes has a positive effect on the outcome.

Complications

• increased risk of pancreatitis
  
• increased risk of coronary artery disease

Call your health care provider for screening, if family members are found to have elevated triglyceride or LDL levels.

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

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