A diagnosis of familial hypercholesterolemia (FH) is usually based on:
|Heterozygous FH (more common, one FH gene)||Homozygous FH (less common, two FH genes)|
|Typical LDL Levels||Over 190 mg/dL for adults|
Over 160 mg/dL for children
|Over 400 mg/dL|
If you have FH, you may be referred to a preventive cardiologist, endocrinologist or lipidologist — a doctor who specializes in treating high cholesterol or lipid disorders.
There are many imaging tests that can look for early development of atherosclerosis (plaque buildup in the arteries) including calcium scoring and CT scans that may help guide your diagnosis or plan.
Two types of screening approaches can be used to find FH: universal and cascade. The American Academy of Pediatrics, for example, recommends that all children have their cholesterol levels checked by ages 9 to 11 years old. This universal screening approach can identify children with high LDL cholesterol levels that are caused by genetics or lifestyle habits given the growing number of children who are overweight.
If you have FH, “family tracing” or “cascade screening” with lipid and/or genetic testing can help identify other first-degree family members who might be affected.
If there is suspected or confirmed FH in a parent, consider screening children starting at age 2. If both parents have FH, consider screening their children at birth.