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Familial combined hyperlipidemia

Multiple lipoprotein-type hyperlipidemia

 

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

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 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.

 

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.

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.

Call 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.

 

 

References

Genest J, Libby P. Lipoprotein disorders and cardiovascular disease. In: Mann DL, Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 10th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 45.

Navarese EP, Kolodziejczak M, Schulze V, et al. Effects of proprotein convertase Subtilisin/Kexin Type 9 antibodies in adults with hypercholesterolemia: a systematic review and meta-analysis. Ann Intern Med. 2015;163(1):40-51. PMID: 25915661 www.ncbi.nlm.nih.gov/pubmed/25915661.

Robinson JG. What is the role of advanced lipoprotein analysis in practice? J Am Coll Cardiol. 2012;60(25):2607-2615. PMID: 23257303 www.ncbi.nlm.nih.gov/pubmed/23257303.

Robinson JG, Farnier M, Krempf M, et al. Efficacy and safety of alirocumab in reducing lipids and cardiovascular events. N Engl J Med. 2015;372(16):1489-1499. PMID: 25773378 www.ncbi.nlm.nih.gov/pubmed/25773378.

Semenkovich, CF. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 206.

 
  • Understanding cholesterol results

    Understanding cholesterol results

    Animation

  •  

    Understanding cholesterol results - Animation

    LDL cholesterol has gotten a bad reputation, and for very good reason. Having too much of this fatty substance in your blood can clog up your arteries, preventing blood from getting to your heart and out to where it's needed in your body. Checking your LDL levels can help your doctor spot high cholesterol before it can cause a heart attack or stroke. Let's talk today about LDL tests. LDL stands for low-density lipoprotein. Lipoprotein is a type of protein that transports cholesterol, as well as fats called triglycerides and lipids, in your blood. When you eat too many fatty, cholesterol-rich foods, LDL cholesterol can start to collect in your artery walls. That's one collection you don't want, because if a chunk of that gunk breaks loose and gets lodged in a blood vessel, you could end up having a heart attack or stroke. To check your LDL cholesterol level, you'll need to have a blood test. Your doctor may tell you not to eat or drink anything for 8 to 12 hours before the test, so you can get an accurate reading. During the test, your doctor will draw blood from one of your veins. The needle might sting a little bit, but the feeling shouldn't last for any more than a few seconds. So, how do you know that you have high LDL cholesterol? Well, your LDL cholesterol level (think L for Lousy) will usually be measured along with your HDL, or good cholesterol (think H for Healthy), as well as your triglycerides and your total cholesterol level. Together, these measurements are called a lipid panel. You want your LDL level to be at least below 130 mg/dl, but ideally less than 100 milligrams per deciliter. If you're at high risk of heart disease, it should be even lower than that -- less than 70 milligrams per deciliter. And for folks of average risk of getting heart disease, anything over 160 is considered a high LDL level. If you do have LDL cholesterol, you could be at risk for heart disease. Now, some folks have high cholesterol because they have an inherited condition that causes high cholesterol. If your LDL is low, it may be because you're not eating a well-balanced diet or your intestines aren't absorbing the nutrients from the foods that you eat. Ask your doctor how often you should have your LDL, and total cholesterol levels, checked. Depending upon your heart disease risks, you may need to be tested more often. If your LDL cholesterol is high, ask your doctor about cholesterol-lowering medications, diet, and other ways to bring it back down into a normal range.

  • Coronary artery blockage

    Coronary artery blockage - illustration

    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.

    Coronary artery blockage

    illustration

  • Healthy diet

    Healthy diet - illustration

    For a healthy diet, replace unhealthy and fattening foods with healthier alternatives, such as fresh fruits and vegetables.

    Healthy diet

    illustration

  • Understanding cholesterol results

    Animation

  •  

    Understanding cholesterol results - Animation

    LDL cholesterol has gotten a bad reputation, and for very good reason. Having too much of this fatty substance in your blood can clog up your arteries, preventing blood from getting to your heart and out to where it's needed in your body. Checking your LDL levels can help your doctor spot high cholesterol before it can cause a heart attack or stroke. Let's talk today about LDL tests. LDL stands for low-density lipoprotein. Lipoprotein is a type of protein that transports cholesterol, as well as fats called triglycerides and lipids, in your blood. When you eat too many fatty, cholesterol-rich foods, LDL cholesterol can start to collect in your artery walls. That's one collection you don't want, because if a chunk of that gunk breaks loose and gets lodged in a blood vessel, you could end up having a heart attack or stroke. To check your LDL cholesterol level, you'll need to have a blood test. Your doctor may tell you not to eat or drink anything for 8 to 12 hours before the test, so you can get an accurate reading. During the test, your doctor will draw blood from one of your veins. The needle might sting a little bit, but the feeling shouldn't last for any more than a few seconds. So, how do you know that you have high LDL cholesterol? Well, your LDL cholesterol level (think L for Lousy) will usually be measured along with your HDL, or good cholesterol (think H for Healthy), as well as your triglycerides and your total cholesterol level. Together, these measurements are called a lipid panel. You want your LDL level to be at least below 130 mg/dl, but ideally less than 100 milligrams per deciliter. If you're at high risk of heart disease, it should be even lower than that -- less than 70 milligrams per deciliter. And for folks of average risk of getting heart disease, anything over 160 is considered a high LDL level. If you do have LDL cholesterol, you could be at risk for heart disease. Now, some folks have high cholesterol because they have an inherited condition that causes high cholesterol. If your LDL is low, it may be because you're not eating a well-balanced diet or your intestines aren't absorbing the nutrients from the foods that you eat. Ask your doctor how often you should have your LDL, and total cholesterol levels, checked. Depending upon your heart disease risks, you may need to be tested more often. If your LDL cholesterol is high, ask your doctor about cholesterol-lowering medications, diet, and other ways to bring it back down into a normal range.

  • Coronary artery blockage

    Coronary artery blockage - illustration

    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.

    Coronary artery blockage

    illustration

  • Healthy diet

    Healthy diet - illustration

    For a healthy diet, replace unhealthy and fattening foods with healthier alternatives, such as fresh fruits and vegetables.

    Healthy diet

    illustration

A Closer Look

 

    Talking to your MD

     

      Self Care

       

        Tests for Familial combined hyperlipidemia

         

           

          Review Date: 5/5/2016

          Reviewed 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 Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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