From the Research
Genetic testing for high HDL cholesterol is generally not routinely recommended in clinical practice, as it is often considered protective against cardiovascular disease. While extremely high HDL levels (above 100 mg/dL) may warrant investigation, specific genetic testing is typically reserved for research purposes or specialized lipid clinics.
If genetic testing is pursued, it would focus on genes like CETP (cholesteryl ester transfer protein), SCARB1 (scavenger receptor class B type 1), and LIPC (hepatic lipase), which are associated with HDL metabolism, as noted in studies on HDL metabolism and CETP inhibition 1. These genes can have variants that lead to reduced protein function and consequently elevated HDL levels. However, the most recent and highest quality study on genetics of familial hypercholesterolemia suggests that genetic testing is more relevant for conditions like familial hypercholesterolemia, which is associated with elevated LDL cholesterol rather than HDL cholesterol 2.
Before considering genetic testing, clinicians typically evaluate for secondary causes of elevated HDL such as:
- Regular aerobic exercise
- Moderate alcohol consumption
- Certain medications (like estrogen, fibrates, or statins)
- Liver or thyroid disorders
A comprehensive lipid panel, including total cholesterol, LDL, triglycerides, and apolipoprotein levels, provides more clinically useful information for cardiovascular risk assessment than genetic testing for high HDL alone. This approach is supported by guidelines and studies on the management of lipid disorders, which emphasize the importance of assessing overall cardiovascular risk rather than focusing solely on HDL levels 3, 4.