A familial lipid disorder is an inherited condition that
causes very high levels of
cholesterol and, in some cases,
triglycerides. Familial lipid disorders often result
in the premature onset of
coronary artery disease (CAD). Because familial lipid
disorders are rare, your doctor may only suspect one if you have:
Because familial lipid disorders are so rare, your primary
care doctor may not have a great deal of experience in dealing with them. In
this case, you may need to see a doctor who specializes in these conditions.
Because familial lipid disorders often result in early CAD, a number of
cardiologists specialize in lipid disorders as well as
heart problems.
Types of familial lipid disorders Disorder | Cholesterol level | Distinguishing characteristics |
|---|
| Familial combined hyperlipidemia (FCHL) | | |
| Familial defective apolipoprotein B-100 | | |
| Familial dysbetalipoproteinemia (type 3
hyperlipoproteinemia) | - Total cholesterol of 300-600
mg/dL
- Triglyceride of 400-800 mg/dL
| |
| Familial hypertriglyceridemia | | - Risk for even higher triglycerides from
secondary causes
|
| Heterozygous familial hypercholesterolemia | - Total cholesterol of 325-450 mg/dL
| - 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
mg/dL
| - CAD before age 20
- Xanthomas on tendons within the first few months of
life
|
