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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.

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 be due to impaired blood flow to parts of the body and 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. The condition may also 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.

Patient Education Video: Understanding cholesterol results

Treatment

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

Coronary artery blockage
Atherosclerosis is a common disorder of the arteries. Fat, cholesterol, and other substances collect in the walls of arteries. Larger accumulations are called atheromas or plaque and can damage artery walls and block blood flow. Severely restricted blood flow in the heart muscle leads to symptoms such as chest pain.

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.

Chest pain
When people have chest pain, they're often concerned they're having a heart attack. I'm Dr. Alan Greene and I'd like to talk to you for a moment about the different kinds of chest pain and when it may be an emergency. It turns out, there are lots of different kinds of chest pain. In fact, almost everything in the chest can hurt in one way or another. Some of the causes are really nothing more than a minor inconvenience. Some of them though are quite serious, even life threatening. You can have chest pain sure from the heart, but also from pneumonia. You can have chest pain from asthma. You can have chest pain from a blood clot in the lungs. It can be from nothing more than a strain of some of the muscles between the ribs, or nerves. You can also have chest pain that comes from acid reflux of from a stomach ulcer, gallstones. Many, many things can cause chest pain. You want to call 911 if you are having sudden, crushing chest pain or if your chest pain radiates into the jaw or the left arm. You want to call 911 if your chest pain also causes shortness of breath, or dizziness, nausea, or vomiting. You want to call 911 if you know you have heart disease and you do occasionally have pain but your pain is getting significantly worse than it is ordinarily. Or comes on with less activity than it does otherwise. But whatever the cause of chest pain, unless you're sure what's causing it, it's worth contacting your physician to find out what may be going on. It's not a symptom to ignore.

MEDICINES

If lifestyle changes do not change your cholesterol levels enough, or you are at very high risk for atherosclerotic heart disease, your health care provider 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.
  • PCSK9 inhibitors, such as alirocumab (Praluent) and evolocumab (Repatha) These represent a newer class of drugs to treat high cholesterol.

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 for heart attack.

Possible Complications

Complications may include:

  • Early atherosclerotic heart disease
  • Heart attack
  • Stroke

When to Contact a Medical Professional

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

Contact your 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.

Gallery

Coronary artery blockage
Atherosclerosis is a common disorder of the arteries. Fat, cholesterol, and other substances collect in the walls of arteries. Larger accumulations are called atheromas or plaque and can damage artery walls and block blood flow. Severely restricted blood flow in the heart muscle leads to symptoms such as chest pain.
Chest pain
When people have chest pain, they're often concerned they're having a heart attack. I'm Dr. Alan Greene and I'd like to talk to you for a moment about the different kinds of chest pain and when it may be an emergency. It turns out, there are lots of different kinds of chest pain. In fact, almost everything in the chest can hurt in one way or another. Some of the causes are really nothing more than a minor inconvenience. Some of them though are quite serious, even life threatening. You can have chest pain sure from the heart, but also from pneumonia. You can have chest pain from asthma. You can have chest pain from a blood clot in the lungs. It can be from nothing more than a strain of some of the muscles between the ribs, or nerves. You can also have chest pain that comes from acid reflux of from a stomach ulcer, gallstones. Many, many things can cause chest pain. You want to call 911 if you are having sudden, crushing chest pain or if your chest pain radiates into the jaw or the left arm. You want to call 911 if your chest pain also causes shortness of breath, or dizziness, nausea, or vomiting. You want to call 911 if you know you have heart disease and you do occasionally have pain but your pain is getting significantly worse than it is ordinarily. Or comes on with less activity than it does otherwise. But whatever the cause of chest pain, unless you're sure what's causing it, it's worth contacting your physician to find out what may be going on. It's not a symptom to ignore.

References

Genest J, Mora S, Libby P. Lipoprotein disorders and cardiovascular disease. In: Libby P, Bonow RO, Mann DL, Tomaselli GF, Bhatt DL, Solomon SD, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 12th ed. Philadelphia, PA: Elsevier; 2022:chap 27.

Robinson JG. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 195.

Last reviewed May 8, 2022 by Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team..

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