Familial hypertriglyceridemia

Definition

Familial hypertriglyceridemia is a common inherited disorder 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 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

• Mild-to-moderate increase in triglycerides
• Premature coronary artery disease

Exams and Tests

• Blood tests to check VLDL and triglyceride levels
• Coronary risk profile

Treatment

The goal of treatment is to control conditions that can raise triglyceride levels, such as obesity, hypothyroidism, and diabetes.

Patients may be told not to drink alcohol. The use of birth control pills (oral contraceptives) should be reviewed and the specific type chosen carefully. People with this condition should avoid 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 effectively reduced triglycerides in those with familial hypertriglyceridemia.

Outlook (Prognosis)

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

Losing weight and keeping diabetes under control helps improve a person's outcome.  

Possible Complications

• Pancreatitis
• Coronary artery disease

Prevention

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

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