Abstract
Résumé
- •A Web site (www.FHCanada.net), which provides information and resources for patients and health care professionals;
- •Better estimates of the prevalence of FH in Canada and the world1;
- •A new, simplified definition of FH specific to the Canadian context4;
- •A validated tool to calculate the baseline LDL-C during treatment with statins or ezetimibe5;
- •Diagnostic tools (http://www.circl.ubc.ca/cardiorisk-calculator.html) for health care professionals to make a precise diagnosis of FH;
- •Initial data from the FH Canada registry6; and
- •Genetic testing for FH in a Clinical Laboratory Improvement Amendments-certified laboratory.
Diagnosis of FH
- 1.We recommend that FH be defined using the DLCNC, Simon Broome Registry, or FH Canada definition (Strong Recommendation, High-Quality Evidence).

Screening for FH
- 2.We recommend that cascade screening (lipid profile) protocols be implemented at the local, provincial, and national level in Canada and offered to first-degree relatives of patients with FH (Strong Recommendation, Moderate-Quality Evidence).
Genetics
- 3.We recommend that genetic testing be offered, when available, to complement a diagnosis of FH and enable cascade screening (Strong Recommendation, High-Quality Evidence).
ASCVD Risk and FH
ASCVD risk stratification in patients with FH: Genetics
ASCVD risk stratification in patients with FH: Clinical variables
ASCVD risk stratification in patients with FH: Imaging
- 4.We recommend that current risk calculators (Framingham Risk Score, Pooled Cohort Equation, European SCORE) should not be used to determine cardiovascular risk in patients with FH (Strong Recommendation, Low-Quality Evidence).
- 5.We suggest that if available, genetic testing should be used to stratify the ASCVD risk in patients with FH (Weak Recommendation, Moderate-Quality Evidence).
- 6.We suggest that conventional risk factors such as age, sex, HDL-C, hypertension, smoking, lipoprotein(a), and diabetes be ascertained in patients with FH (Weak Recommendation, Moderate-Quality Evidence).
Management of FH in Adults
Overall goals of treatment
Lifestyle factors
- 7.We suggest that patients with FH adopt a healthy lifestyle as recommended by the CCS guidelines on the diagnosis and treatment of dyslipidemias9(Weak Recommendation, Low-Quality Evidence).
Pharmacologic therapies
- 8.1.Because the diagnosis of FH using validated clinical criteria and/or genotyping may occur at any age and imparts a high, lifelong risk of ASCVD, we recommend a personalized treatment plan, taking into account, at a minimum, age, additional cardiovascular risk factors, psychosocial and socioeconomic factors, and personal as well as family preferences, that should be developed as a shared-decision process (Strong Recommendation, Low-Quality Evidence).
- 8.2.We recommend that for patients with FH requiring medications, a personalized treatment plan should include statins as the primary therapy and secondary agents as required, including ezetimibe and PCSK9 inhibitors according to the CCS guidelines on the diagnosis and treatment of dyslipidemias9(Strong Recommendation, Low-Quality Evidence).
- 9.In patients with FH and ASCVD, we suggest that targets should follow the recommendations of the CCS guidelines on the diagnosis and treatment of dyslipidemias9(LDL-C < 2.0 mmol/L and non–HDL-C < 2.6 mmol/L) (Weak Recommendation, Moderate-Quality Evidence).
- 10.We recommend that statins be used as the primary line of therapy (Strong Recommendation, High-Quality Evidence).
- 11.We suggest that ezetimibe be used as second-line agent to achieve unmet LDL-C goals (Weak Recommendation, Low-Quality Evidence).
- 12.We recommend that monoclonal antibody inhibitors of PCSK9 be considered in adult FH individuals without ASCVD if they have not achieved a 50% reduction in LDL-C from baseline level and reached an LDL-C level of at least < 3.5 mmol/L or lower (as determined by the shared decision process between physician and patient) on maximally tolerated statin therapy with or without ezetimibe, as per recommendation 8 (Strong Recommendation, High-Quality of Evidence).
Lipoprotein apheresis
- Cuchel M.
- Bruckert E.
- Ginsberg H.N.
- et al.
- Drouin-Chartier J.P.
- Tremblay A.J.
- Bergeron J.
- Lamarche B.
- Couture P.
Specific groups
Pregnancy in FH
- 13.We recommend that statins should not be used during pregnancy (Strong Recommendation, Low-Quality Evidence).
Type 2 diabetes mellitus in patients with FH
HoFH
- Cuchel M.
- Bruckert E.
- Ginsberg H.N.
- et al.
- Cuchel M.
- Bruckert E.
- Ginsberg H.N.
- et al.
- 14.We recommend that patients with HoFH be referred to a specialized lipid clinic and undergo complete evaluation for genetic analysis, presence of ASCVD, and aggressive lipid-lowering therapies, including consideration for extracorporeal LDL-C removal, lomitapide, and PCSK9 inhibitors (Strong Recommendation, Moderate-Quality Evidence).
Pediatric aspects
Screening and diagnosis
- 15.We suggest that universal cholesterol level screening be considered for detection of FH in children with reverse cascade screening of parents when warranted (Weak Recommendation, Moderate-Quality Evidence).
Management
- 16.We suggest that statin therapy be considered usually between 8 and 10 years of age if LDL-C remains ≥ 4.9 mmol/L, or ≥ 4.1 mmol/L with a family history of premature ASCVD or other cardiovascular risk factors or risk conditions (Weak Recommendation, Moderate-Quality Evidence).
Cascade Screening, FH Registry, Knowledge Translation
Cascade screening
FH registries
- 17.We recommend that a national registry for FH be implemented to raise awareness among patients and health care professionals and to provide advocacy to ensure access to effective therapies (Strong Recommendation, Moderate-Quality Evidence).
Knowledge translation
Conclusions

Acknowledgements
Supplementary Material
- Supplementary Material
References
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Article Info
Publication History
Footnotes
The disclosure information of the authors and reviewers is available from the CCS on their guidelines library at www.ccs.ca.
This statement was developed following a thorough consideration of medical literature and the best available evidence and clinical experience. It represents the consensus of a Canadian panel comprised of multidisciplinary experts on this topic with a mandate to formulate disease-specific recommendations. These recommendations are aimed to provide a reasonable and practical approach to care for specialists and allied health professionals obliged with the duty of bestowing optimal care to patients and families, and can be subject to change as scientific knowledge and technology advance and as practice patterns evolve. The statement is not intended to be a substitute for physicians using their individual judgement in managing clinical care in consultation with the patient, with appropriate regard to all the individual circumstances of the patient, diagnostic and treatment options available and available resources. Adherence to these recommendations will not necessarily produce successful outcomes in every case.