Table 4 Clinical recommendations on risk stratification in patients with familial hypercholesterolaemia
Clinical recommendations | Class | Level |
|---|---|---|
1. Routine assessment and stratification of the risk of ASCVD in all patients with FH should be used to develop effective personalized treatment plans and guide overall management, aiming to maximize reduction in the risk of cardiovascular events and improve quality of life | 1 | B |
2. All patients with FH, including children and adolescents, should be assessed for the presence of heart-healthy behaviours and non-cholesterol risk factors (that is, age, sex, smoking, hypertension, diabetes, obesity and mental health conditions) to stratify the risk of ASCVD | 1 | B |
3. The use of coronary artery disease polygenic risk scores may be considered for stratifying the risk of ASCVD in patients with HeFH, but their value in patient care remains to be established | 3 | B |
4. Additional factors particularly relevant to FH that should be assessed to stratify risk include plasma or serum concentrations of LDL-cholesterol and lipoprotein(a) at diagnosis, LDL-cholesterol life-years, family history of premature ASCVD (especially in first-degree relatives), tendon xanthomas (detected clinically or with imaging) and a positive genetic test result if available | 1 | A |
5. Female-specific factors (such as reproductive history, duration off statin therapy owing to pregnancy and breast feeding, and age at menopause) should be considered when assessing the risk of ASCVD in women with FH | 2 | B |
6. Use of FH-specific cardiovascular risk calculators (such as the SAFEHEART risk equation and the FH Risk Score) should be considered to assess the risk of ASCVD in adult patients with an established diagnosis of HeFH | 2 | B |
7. Cardiovascular risk calculators developed for the general population (such as the Framingham Risk Score, Pooled Cohort Equation, SCORE-2 or QRISK-3) should not be used in patients with FH | 1 | B |
8. In asymptomatic adult patients with HeFH, CACS, CT coronary angiography and carotid ultrasonography may be considered to document the presence and extent of atherosclerotic plaque burden and to guide risk assessment, the timing of initial evaluation being dependent on clinical context and indications | 3 | B |
9. Use of FH-specific cardiovascular risk calculators combined with CACS should be considered to risk stratify adult patients with FH treated with statins | 2 | B |
10. In children and adolescents with HeFH, measurement of carotid intima–media thickness with ultrasonography should not be routinely considered for assessing the risk of ASCVD in clinical practice, because extensive technical expertise is required and clinical value is not established | 2 | B |
11. In children and adolescents with HeFH, CACS, CT coronary angiography and current FH risk calculators (such as the SAFEHEART risk equation or FH Risk Score) should not be used to assess ASCVD risk | 1 | C |
12. In all patients with HoFH, CT coronary angiography (or cardiac catheterization), carotid ultrasonography (or more advanced methods), echocardiography and exercise stress testing should be offered, at initial diagnosis and as clinically indicated (for example, because of cardiac symptoms or a high plaque burden at diagnosis), to assess coronary atherosclerosis (particularly high-risk coronary ostial disease), carotid plaques, atheromatous involvement of the aortic valve (or root), aortic stenosis and inducible myocardial ischaemia, respectively, with the aim of guiding overall management, including the intensity of the cholesterol-lowering therapy | 1 | B |
