Familial Lipid Disorders

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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 190 mg/dL. Total cholesterol might be over 300 mg/dL.
  • A family history of high cholesterol.
  • A family history of early CAD.
  • Certain results from a physical exam. 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 190 mg/dL)
    • High triglycerides
    • Low HDL
  • Familial defective apolipoprotein B-100
    • High total cholesterol (such as 350 to 550 mg/dL)
  • Familial dysbetalipoproteinemia (type 3 hyperlipoproteinemia)
    • High total cholesterol and high triglyceride levels (from 300 to 1,000 mg/dL)
  • Familial hypertriglyceridemia
    • Very high triglycerides (such as 200 to 500 mg/dL)
  • Heterozygous familial hypercholesterolemia
    • High total cholesterol (such as 350 to 550 mg/dL)

Related Information

References

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, Libby P (2008). Lipoprotein disorders and cardiovascular disease. In RO Bonow et al., eds., Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 9th ed., vol. 1, pp. 975–995. Philadelphia: Saunders.

Credits

ByHealthwise Staff
Primary Medical ReviewerKathleen Romito, MD - Family Medicine
Specialist Medical ReviewerRobert A. Kloner, MD, PhD - Cardiology
Rakesh K. Pai, MD, FACC - Cardiology, Electrophysiology

Current as ofFebruary 20, 2015