Summary of recommendations
| RECOMMENDATIONS | LEVEL OF EVIDENCE |
|---|---|
| Screening and diagnosis of FH | |
| Who should be screened? | |
| • In adults, screen plasma lipid levels in all men aged ≥ 40 y and all women aged ≥ 50 y or after menopause | III |
| • In pediatric patients, consider routine universal screening of plasma lipid levels at age 11 y or as early as 12 mo in children with a first-degree family history of ASCVD or FH | III |
| • Once an FH proband has been identified, perform cascade screening on their relatives | II |
| When should FH be suspected? | |
| • Any patient with premature ASCVD, physical stigmata of hypercholesterolemia, or a plasma LDL level of ≥ 5 mmol/L should be suspected of having FH | II |
| How should the diagnosis of FH be confirmed? | |
| • In patients with hypercholesterolemia, rule out secondary causes such as medical conditions (eg, hypothyroidism, diabetes mellitus, nephrotic syndrome, obstructive liver disease), drugs (eg, corticosteroids, diuretics), excess alcohol consumption, very poor diet, and sedentary lifestyle | III |
| • Diagnose FH using the Simon Broome Register or the Dutch Lipid Network criteria | II |
| Management | |
| Management of FH | |
| • Do not use cardiovascular risk calculators (eg, Framingham risk score) in patients with FH, as these do not reflect the true risk of ASCVD | II |
| • Consider enrolling patients with FH in the Canadian FH Registry* by referring them to a participating clinician or centre | III |
| • Aggressively manage traditional ASCVD risk factors, such as cessation of tobacco use and treatment of hypertension and diabetes | II |
| Management of HeFH | |
| • Reduce LDL level by ≥ 50% from baseline | III |
| • Use high-dose statin as first-line therapy | II |
| • In patients who fail to achieve a ≥ 50% reduction in LDL levels with maximally tolerated statin therapy, add other LDL-lowering agents, such as ezetimibe, bile-acid sequestrants (eg, cholestyramine, colesevelam), fibrates, or niacin | II |
| Management of HoFH | |
| • Refer patients with HoFH to a specialized centre | III |
ASCVD—atherosclerotic cardiovascular disease, FH—familial hypercholesterolemia, HeFH—heterozygous familial hypercholesterolemia, HoFH—homozygous familial hypercholesterolemia, LDL—low-density lipoprotein.
↵* For more information, visit the FH Canada website at www.fhcanada.net/fh-canada-registry.