Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia

Question 1

What are the Simon Broome Registry criteria for FH?

Answer 1

1. A plasma measurement of either: TC >6.7 (<16yo) or LDL >4.0 (<16yo)
2. Tendon xanthomas in the patient or any of the patient’s first or second degree relatives
3. DNA-based evidence in the patient of mutation in LDLR or other FH-related gene
4. Family history of MI at <50yo in any first or second degree relative OR <60yo in any first degree relative
5. Family history of of plasma TC >7.5 in any first or second degree relative

Question 2

What are the Dutch Lipid Clinic Network criteria for FH?

Answer 2

1. First degree relative with premature CVD or LDL-C >95th percentile or personal history of premature peripheral or cerebrovascular disease or LDL-C 4.01-4.89mmol/L
2. First degree relative with tendinous xanthoma or corneal arcus, or first degree relative <18yo with LDL-C >95th percentile or personal history of coronary artery disease
3. LDL-C between 4.91-644 mmol/L
4. Presence of corneal arcus in patient <45yo
5. LDL-C between 6.46-8.51mmol/L
6. Presence of tendon xanthoma
7. LDL-C > 8.53 mmol/L or functional mutation in LDLR gene

Definite FH >8points
Probably FH 6-7 points
Possible FH 3-5 points

Question 3

What is the recommendation regarding screening in children and adolescents?

Answer 3

Screening plasma lipid profile in children with positive family history, poor lifestyle or cardiovascular disease, obesity, smoking, hypertension, or type 2 DM

Question 4

What is the primary prevention targets for adult FH patients?

Answer 4

1. Consider high risk

2. >50% reduction in LDL-C from baseline

Question 5

What is the secondary prevention target for adult FH patients?

Answer 5

Target LDL-C <2.0mmol/L

Question 6

What are the recommendations regarding management of FH in children?

Answer 6

1. Lifestyle changes x 12m first (diet, exercise, tobacco-free)
2. Statins as first line therapy, with ezetimibe and bile acid binding resins as second-line therapy
3. Niacin is no longer recommended

Question 7

When should children be referred to a specialized centre and considered for extracorporeal plasma exchange or LDL apheresis and emerging therapies?

Answer 7

Homozygous FH patients >7yo and >15kg

Question 8

What are the recommendations regarding pregnancy and FH?

Answer 8

Stop lipid-lowering therapy excld. bile-acid binding resins at least 4 weeks prior to contraception and until cessation of breastfeeding.
Statins are contraindicated in pregnancy