Table 2.

Cardiovascular disease in FH

	CVD risk
Simon Broome Register Group (1991) [25]
• Deaths from coronary disease FH vs. non FH	SMR: 386 (95 % CI 210 to 639)
Benn et al. (2012) [13]
• CAD in FH vs. non FH (no lipid lowering therapy)	OR: 13.2 (95 % CI 10.0–17.4)
• CAD in FH vs. non FH (with lipid lowering therapy)	OR: 10.3 (95 % CI 7.8–13.8)
Huijgen et al. (2012) [48]
• Event free survival in carriers of pathogenic LDLR mutation vs. no pathogenic LDLR mutation	HR: 3.64 (95 % CI = 3.24–4.08, p < 0.001)
Do et al. (2015) [15•]
• MI in carriers of non-synonymous mutations LDLR gene vs. no non-synonymous mutations LDLR gene	OR 4.2 (p = 3 × 10^−11)
• MI in LDLR null mutation vs. no null mutation	OR 13.0 (p = 9 × 10^−5)

FH familial hypercholesterolemia, CVD cardiovascular disease, SMR standardized mortality ratio, CI confidence interval, CAD coronary artery disease, OR odds ratio, HR hazard ratio, p p value, MI myocardial infarction, LDLR LDL receptor