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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

Disorder

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 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

Related Information

References

Other Works Consulted

  • Brunzell JD, Failor RA (2006). Diagnosis and treatment of dyslipidemia. In DC Dale, DD Federman, eds., ACP Medicine, section 9, chap. 6. New York: WebMD.
  • Genest J, Libby P (2008). Lipoprotein disorders and cardiovascular disease. In P Libby et al., eds., Braunwald's Heart Disease, 8th ed., vol. 1, pp. 1071–1092. Philadelphia: Saunders Elsevier.
  • Grundy S, et al. (2002). Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) (NIH Publication No. 02–5215). Bethesda, MD: National Institutes of Health. Also available online: http://www.nhlbi.nih.gov/guidelines/cholesterol/atp3full.pdf.

Credits

By Healthwise Staff
Primary Medical Reviewer E. Gregory Thompson, MD - Internal Medicine
Specialist Medical Reviewer Carl Orringer, MD - Cardiology, Clinical Lipidology
Last Revised July 2, 2010

Last Revised: July 2, 2010

Author: Healthwise Staff

Medical Review: E. Gregory Thompson, MD - Internal Medicine & Carl Orringer, MD - Cardiology, Clinical Lipidology

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