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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:

  • 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

  • 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.


Current as of:
August 31, 2020

Author: Healthwise Staff
Medical Review:
Kathleen Romito MD - Family Medicine
Donald Sproule MDCM, CCFP - Family Medicine
E. Gregory Thompson MD - Internal Medicine
Adam Husney MD - Family Medicine
Martin J. Gabica MD - Family Medicine
Robert A. Kloner MD, PhD - Cardiology
Rakesh K. Pai MD, FACC - Cardiology, Electrophysiology