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Familial combined hyperlipidemia

Definition

Familial combined hyperlipidemia is a disorder of high cholesterol and high blood triglycerides that is inherited, which means it is passed down through families.

Alternative Names

Multiple lipoprotein-type hyperlipidemia

Causes, incidence, and risk factors

Familial combined hyperlipidemia is the most common genetic disorder of increased blood fats that causes early heart attacks. However, researchers have not yet identified the specific genes responsible.

Diabetes, alcoholism, and hypothyroidism make the condition worse. Risk factors include a family history of high cholesterol and early coronary artery disease.

Symptoms

Chest pain (angina) may occur. However, there may not be any physical symptoms.

Persons with this condition develop high cholesterol or triglyceride levels during the teenage years. The levels remain high throughout life. They have an increased risk of early coronary artery disease and heart attacks. Those with familial combined hyperlipidemia have a higher rate of obesity and glucose intolerance.

Signs and tests

Blood tests will be done to check your levels of cholesterol and triglycerides. Specific tests include:

• LDL test (increased)
• HDL test (decreased)
• Triglycerides test (increased)
• Apolipoprotein B100 test (increased)

Genetic testing is available for one type of familial combined hyperlipidemia.

Treatment

The goal of treatment is to reduce the risk of atherosclerotic heart disease.

LIFESTYLE CHANGES

The first step is to change what you eat. This is tried for several months before drug therapy is added. Diet changes include reducing total fat intake to less than 30% of the total calories you eat.

You can reduce your saturated fat intake by:

• Decreasing amounts of beef, chicken, pork, and lamb
• Substituting low-fat dairy products for full-fat ones
• Eliminating coconut and palm oils

You can reduce your the amount of cholesterol you eat by eliminating egg yolks and organ meats.

Dietary counseling is often recommended to help people make these adjustments to their eating habits. Weight loss and regular exercise may also aid in lowering cholesterol levels.

See also: Heart disease and diet

MEDICATIONS

If lifestyle changes do not change your cholesterol levels, your doctor may recommend medication. There are several types of drugs available to help lower blood cholesterol levels, and they work in different ways. Some are better at lowering LDL cholesterol, some are good at lowering triglycerides, while others help raise HDL cholesterol.

The most commonly used and effective drugs for treating high LDL cholesterol are called statins. The include lovastatin (Mevacor), pravastatin (Pravachol), simvastatin (Zocor), fluvastatin (Lescol), atorvastatin (Lipitor), and rosuvastatin (Crestor).

Other cholesterol-lowering medicines include:

• Bile acid-sequestering resins
• Ezetimibe
• Fibrates (such as gemfibrozil)
• Nicotinic acid

Support Groups

Expectations (prognosis)

How well a person does depends on how early the condition is diagnosed, when treatment is received, and whether treatment is followed. Without treatment, heart attack or stroke may cause early death.

Some people may have such high lipid levels that an increased risk of heart attack remains despite medical therapy.

Complications

• Early atherosclerotic heart disease
• Heart attack
• Stroke

Calling your health care provider

Seek immediate medical care if you have chest pain or other warning signs of a heart attack.

Call for an appointment with your health care provider if you have a personal or family history of high cholesterol levels.

Prevention

A low-cholesterol, low-saturated fat diet in high-risk individuals may help to control LDL levels.

If someone in your family has this condition, you may want to consider genetic screening for yourself or your children. Sometimes younger children may have mild hyperlipidemia.

It is important to control other risk factors for early heart attacks, such as smoking, if you have this disease.

References

Genest J, Libby P. Lipoprotein disorders and cardiovascular disease In: Libby P, Bonow RO, Mann DL, Zipes DP, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 42.

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.