Hyperlipoproteinemia

Written by Amber Erickson Gabbey | Published on January 30, 2014
Medically Reviewed by George Krucik, MD, MBA on January 30, 2014

What is Hyperlipoproteinemia?

Hyperlipoproteinemia is a common disorder. It causes an inability to break down lipids or fats in the body, specifically cholesterol and triglycerides. There are several types of hyperlipoproteinemia, depending on the concentration of lipids. Hyperlipoproteinemia is often genetic and caused by a defect.

High levels of cholesterol and/or triglycerides are serious because they are associated with heart problems.

Types of Hyperlipoproteinemia

There are five types of hyperlipoproteinemia:

  • Type 1 (pure hypercholesterolemia) is characterized by high cholesterol levels and normal triglycerides. LDL (low-density lipoprotein), considered the “bad” cholesterol, is especially elevated. Type 1 runs in families.
  • Type 2 (pure or familial hyperchylomicronemia) is characterized by high triglyceride levels and normal cholesterol. There are two Type 2 subtypes: one with increased VLDL (very low-density lipoproteins) and one with normal VLDL levels. Type 2 also often runs in families.
  • Type 3 is characterized by high triglyceride levels and high cholesterol levels.
  • Type 4 is characterized by high VLDL levels with normal LDL levels.
  • Type 5 is characterized by increased VLDL levels and the presence of chylomicrons, another kind of lipoprotein.

What Causes Hyperlipoproteinemia?

Hyperlipoproteinemia can be a primary or secondary condition.

Primary conditions are caused by problems with lipids in the body or lifestyle choices that affect lipids. Secondary disorders are the result of other health conditions, such as diabetes, hypothyroidism, or pancreatitis.

Primary hyperlipoproteinemia can be genetic and a result of a defect in lipoproteins. Environmental factors can also cause primary hyperlipoproteinemia. These include diet, alcohol, and drug use.

Some common prescription drugs that cause lipid problems include contraceptives and steroids.

What Are the Symptoms of Hyperlipoproteinemia?

Lipid deposits are the main symptom of hyperlipoproteinemia. The location of lipid deposits can help to determine the type. Some lipid deposits, called xanthomas, are yellow and crusty. They occur on the skin.

Many people with hyperlipoproteinemia experience no symptoms, but become aware of the condition when they develop a heart condition.

Other signs and symptoms of hyperlipoproteinemia include:

  • pancreatitis (type 1)
  • abdominal pain (types 1 and 5)
  • enlarged liver or spleen (type 1)
  • lipid deposits or xanthomas (type 1)
  • family history of heart disease (types 2 and 4)
  • family history of diabetes (types 4 and 5)
  • heart attack
  • stroke

How is Hyperlipoproteinemia Diagnosed?

A doctor can diagnose hyperlipoproteinemia with a blood test. Sometimes, family history is useful. If you have lipid deposits on your body, your doctor will also examine those.

Other diagnostic tests might measure thyroid function, glucose, protein in the urine, liver function, and uric acid.

How is Hyperlipoproteinemia Treated?

Treatment for hyperlipoproteinemia will depend on the type. When the condition is the result of hypothyroidism, diabetes, or pancreatitis, treatment will take the underlying disorder into account.

Certain lifestyle changes can help with hyperlipoproteinemia. These include a low-fat diet, increased exercise, weight loss, lowering stress, and drinking less alcohol. Prescription medications can also help lower lipid levels.

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