44
Management
4.2.4.1. Role of Risk Assessment in Heterozygous Familial
Hypercholesterolemia (HeFH)
COR LOE
Recommendations
2b B-NR
1. In adults with HeFH, FH-specific risk scores may be useful in
predicting short-term ASCVD risk.
3: Harm C-EO
2. In individuals with HeFH, standard risk assessment tools
developed for the general population should not be used to
calculate 10-year or 30-year ASCVD risk.
4.2.4. Severe Hypercholesterolemia (LDL-C ≥190 mg/dL
[4.9 mmol/L])
4.2.4.2. Genetic Testing for Familial Hypercholesterolemia
COR LOE
Recommendations
1 B-NR
1. In adults with possible, probable, or definite FH, panel-based
genetic testing for pathogenic/likely pathogenic rare variants
for FH is beneficial to identify individuals at highest risk of
cardiovascular events and to facilitate cascade screening.
2a B-NR
2. In adults with severe hypercholesterolemia with an LDL-C
≥190 mg/dL (4.9 mmol/L) without an identified secondary
cause, panel-based genetic testing for pathogenic/likely
pathogenic rare variants for FH can be useful to identify
those with FH who are at higher risk of ASCVD events.
2b B-NR
3. In adults with an elevated LDL-C of 160 to 189 mg/dL
(4.1–4.9 mmol/L) without an identified secondary cause,
panel-based genetic testing for pathogenic/likely pathogenic
rare variants for FH may be considered to identify those with
FH who are at higher risk of events.
