Table 6.

Recommended Evaluations Following Initial Diagnosis in Individuals with Familial Hypercholesterolemia

System/ConcernEvaluationComment
Cardiovascular Measurement of pre-treatment lipid values when possible: TC, LDL-C, HDL-C, triglycerides, lipoprotein(a)
Consultation w/lipid specialist or clinician w/expertise in FH
Consider noninvasive imaging modalities (e.g., measurement of carotid intima-media thickness) to help inform treatment decisions, esp in those w/HoFH or AR FH.Recommended in some guidelines 1
Eval for concurrent illnesses (kidney disease, obstructive liver disease, acute myocardial infarction, hypothyroidism) that can affect lipid values
Genetic
counseling 		By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of FH to facilitate medical & personal decision making

AR = autosomal recessive; FH = familial hypercholesterolemia; HDL-C = high-density lipoprotein cholesterol; HoFH = FH resulting from biallelic (homozygous or compound heterozygous) pathogenic variants in APOB, LDLR, or PCSK9; LDL-C = low-density lipoprotein cholesterol; MOI = mode of inheritance; TC = total cholesterol

1.
2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Familial Hypercholesterolemia

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