Familial lipid disorders
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.
- A family history of high cholesterol.
- A family history of early CAD.
- Certain results from a physical exam.
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 Disorder
Cholesterol level
Distinguishing characteristics
Familial combined hyperlipidemia (FCHL)
- High total cholesterol, usually with high triglycerides
- High triglycerides and low HDL
- Appears in adulthood
- Happens more often in families with obesity, hypertension, and diabetes
Familial defective apolipoprotein B-100
- High LDL
Familial dysbetalipoproteinemia (type 3 hyperlipoproteinemia)
- Total cholesterol of 300–600
- Triglyceride of 400–800
- 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 325–450
- 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 500–1,000
- CAD before age 20
- Xanthomas on tendons within the first few months of life
| Author: | Robin Parks, MS Christopher Hess | Last Updated: July 11, 2008 |
| Medical Review: | E. Gregory Thompson, MD - Internal Medicine Sue Barton, PhD, PsyD - Behavioral Health Robert A. Kloner, MD, PhD - Cardiology Carl Orringer, MD - Cardiology, Clinical Lipidology | |
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