Familial Lipid Disorders

Topic Overview

A familial lipid disorder is a condition that runs in families. It causes very high levels of cholesterol. This condition can cause a person to get coronary artery disease (CAD) while still young.

Because familial lipid disorders are rare, your doctor may only suspect one if you have:

• Very high cholesterol levels. For example, LDL cholesterol might be over 4.9 mmol/L (190 mg/dL). Total cholesterol might be over 7.7 mmol/L (300 mg/dL).
• A family history of high cholesterol.
• A family history of early CAD.
• Certain results from a physical examination. These results include xanthomas, a skin condition in which small bumps of fat appear under the skin.

Your family doctor may not have much experience with familial lipid disorders, so you may have to see a specialist, such as an endocrinologist. And some cardiologists specialize in lipid disorders as well as heart problems.

Types of familial lipid disorders

There are different types of lipid disorders. They include:

• Familial combined hyperlipidemia (FCHL)
  • High total cholesterol
  • High LDL (such as more than 4.9 mmol/L [190 mg/dL])
  • High triglycerides
  • Low HDL
• Familial defective apolipoprotein B-100
  • High LDL (such as 4.1 to 7.7 mmol/L [160 to 300 mg/dL])
• Familial dysbetalipoproteinemia (type 3 hyperlipoproteinemia)
  • High total cholesterol and high triglyceride levels (from 7.7 to 25.8 mmol/L [300 to 1,000 mg/dL])
• Familial hypertriglyceridemia
  • Very high triglycerides (such as 5.1 to 12.9 mmol/L [200 to 500 mg/dL])
• Heterozygous familial hypercholesterolemia
  • High LDL (such as 4.9 to 9.0 mmol/L [190 to 350 mg/dL])