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Familial combined hyperlipidemia

Definition

Familial combined hyperlipidemia is a disorder that is passed down through families. It causes high cholesterol and high blood triglycerides.

Alternative Names

Multiple lipoprotein-type hyperlipidemia

Causes

Familial combined hyperlipidemia is the most common genetic disorder that increases blood fats. It can cause early heart attacks. However, researchers have not yet found which specific genes cause it.

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

Symptoms

In the early years there may be no symptoms.

When symptoms appear, they may include:

  • Chest pain (angina) or other signs of coronary artery disease; may be present at a young age
  • Cramping of one or both calves when walking
  • Sores on the toes that do not heal
  • Sudden stroke-like symptoms, such as trouble speaking, drooping on one side of the face, weakness of an arm or leg, and loss of balance

People with this condition develop high cholesterol or high triglyceride levels as teenagers. The levels remain high all during life. Those with familial combined hyperlipidemia have an increased risk of early coronary artery disease and heart attacks. They also have higher rates of obesity and are more likely to have glucose intolerance.

Exams and Tests

Blood tests will be done to check your levels of cholesterol and triglycerides. Tests will show:

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. Most of the time, you will try diet changes for several months before your doctor recommends medicines. Diet changes include lowering the amount of saturated fat and refined sugar.

Here are some changes you can make:

  • Eat less beef, chicken, pork, and lamb
  • Substitute low-fat dairy products for full-fat ones
  • Avoid packaged cookies and baked goods that contain trans fats
  • Reduce the cholesterol you eat by limiting egg yolks and organ meats

Counseling is often recommended to help people make changes to their eating habits. Weight loss and regular exercise may also help lower your cholesterol levels.

MEDICATIONS

If lifestyle changes do not change your cholesterol levels, or you are at very high risk for atherosclerotic heart disease, your doctor may recommend that you take medicines. There are several types of drugs to help lower blood cholesterol levels.

The drugs work in different ways to help you achieve healthy lipid levels. Some are better at lowering LDL cholesterol, some are good at lowering triglycerides, while others help raise HDL cholesterol.

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

Other cholesterol-lowering medicines include:

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

Outlook (Prognosis)

How well you do depends on:

  • How early the condition is diagnosed
  • When you start treatment
  • How well you follow your treatment plan

Without treatment, heart attack or stroke may cause early death.

Even with medicine, some people may continue to have high lipid levels that increase their risk of heart attack.

Possible Complications


  • Early atherosclerotic heart disease
  • Heart attack
  • Stroke

When to Contact a Medical Professional

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

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

Prevention

A diet that is low in cholesterol and saturated fat may help to control LDL levels in people at high risk.

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.

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.


Review Date: 5/20/2014
Reviewed 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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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