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])


Other Works Consulted

  • Brunzell JD (2010). Diagnosis and treatment of dyslipidemia. In EG Nabel, ed., ACP Medicine, section 9, chap. 6. Hamilton, ON: BC Decker.
  • Genest J (2015). Lipoprotein disorders and cardiovascular disease. In DL Mann et al., eds., Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 10th ed., pp. 980–1000. Philadelphia: Saunders.
  • 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:


ByHealthwise Staff
Primary Medical Reviewer Kathleen Romito, MD - Family Medicine
Donald Sproule, MDCM, CCFP - Family Medicine
E. Gregory Thompson, MD - Internal Medicine
Adam Husney, MD - Family Medicine
Specialist Medical Reviewer Robert A. Kloner, MD, PhD - Cardiology
Rakesh K. Pai, MD, FACC - Cardiology, Electrophysiology

Current as ofMay 8, 2015