Familial combined hyperlipidemia
Familial combined hyperlipidemia is a disorder that is passed down through families. It causes high cholesterol and high blood triglycerides.
Multiple lipoprotein-type hyperlipidemia
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.
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 may develop high cholesterol or high triglyceride levels as teenagers, or the condition may be diagnosed when people are in their 20s and 30s. 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:
- Increased LDL cholesterol
- Decreased HDL cholesterol
- Increased triglycerides
- Increased apolipoprotein B100
Genetic testing is available for one type of familial combined hyperlipidemia.
The goal of treatment is to reduce the risk of atherosclerotic heart disease.
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.
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
- Fibrates (such as gemfibrozil and fenofibrate)
- Nicotinic acid
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.
- Early atherosclerotic heart disease
- Heart attack
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.
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.
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.
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.