Familial Lipid Disorders

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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:

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


Cholesterol level

Other details

Familial combined hyperlipidemia (FCHL)
  • High total cholesterol, usually with high triglycerides
  • High triglycerides and low HDL
Familial defective apolipoprotein B-100  
Familial dysbetalipoproteinemia (type 3 hyperlipoproteinemia)
  • Total cholesterol of 7.8–15.5
  • Triglyceride of 4.5–9.0
  • CAD, heart attack, and stroke at a young age
  • Xanthomas, a skin condition in which small bumps of fat appear under the skin
Familial hypertriglyceridemia
  • Very high triglycerides
  • Risk for even higher triglycerides from other causes
Heterozygous familial hypercholesterolemia
  • Total cholesterol of 8.4–11.6
  • CAD before age 50
  • Small, pale ring around the iris of the eye
  • Xanthomas on tendons in young adults
Homozygous familial hypercholesterolemia
  • Total cholesterol of 12.9–25.8
  • CAD before age 20
  • Xanthomas on tendons within the first few months of life


By Healthwise Staff
Primary Medical Reviewer E. Gregory Thompson, MD - Internal Medicine
Primary Medical Reviewer Brian D. O'Brien, MD - Internal Medicine
Specialist Medical Reviewer Carl Orringer, MD - Cardiology, Clinical Lipidology
Last Revised October 19, 2010

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