Polygenic Hypercholesterolemia Workup
- Author: Catherine Anastasopoulou, MD, PhD, FACE; Chief Editor: George T Griffing, MD more...
The US National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) suggests screening asymptomatic individuals aged 20 years or older with a fasting lipid panel every 5 years.
Based on US preventive screening taskforce (USPTF) 2014 recommendation, level A recommendations include screening men older than 35 years and women older than 45 years with risk factors. Level B recommendations include screening men aged 20-35 years with risk factors and women aged 20-45 years with risk factors. The risk factors include any one of the following:
Previous personal history of CHD or noncoronary atherosclerosis (eg, abdominal aortic aneurysm, peripheral artery disease, carotid artery stenosis)
Family history of cardiovascular disease in male relatives younger than 50 years or in female relatives younger than age 60 years
Obesity (BMI ≥30)
Practically speaking, performing a risk factor analysis prior to obtaining screening blood test results is preferable. Patients can have risk factors for coronary heart disease (CHD) other than low-density lipoprotein cholesterol (LDL-C; see Causes).
A full lipid profile is obtained after the patient fasts for 9-12 hours.
Chylomicrons must be absent and the total triglyceride level must be less than 400 mg/dL in order to use the Friedewald formula to calculate LDL-C. The Friedewald formula is LDL-C = total cholesterol - high-density lipoprotein cholesterol (HDL-C) - triglycerides/5.
Direct LDL-C measurements do not offer any greater use, except in patients with marked hypertriglyceridemia. Direct LDL-C measurements can be performed while the patient is in the nonfasting state.
To perform a careful medical evaluation, the practitioner must ascertain all medication intake (both prescription and over-the-counter medications) and perform tests of serum thyroid-stimulating hormone, liver function, creatinine, and urinalysis to rule out secondary dyslipidemias.
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