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 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:

      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.

      Coronary artery blockage


      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.

      Healthy diet


      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

      Robinson JG. What is the role of advanced lipoprotein analysis in practice? J Am Coll Cardiol. 2012;60(25):2607-2615. PMID: 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

      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.