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Table 2 Simon Broome Register Diagnostic Criteria

From: The genetics and screening of familial hypercholesterolaemia

A diagnosis of explicit FH requires either (1), (2) or (3)
1 i. Cholesterol higher than 7.5 mmol/L or LDL-cholesterol above 4.9 mmol/L in adult
ii. Tendon xanthomas in patient or a 1st degree relative (parent, sibling, child), or in a 2nd degree relative (grand parent, uncle, aunt)
2 i. Cholesterol higher than 6.7 mmol/L or LDL-cholesterol above 4.0 mmol/L in a child under 16 years of age
ii. Tendon xanthomas in patient or a 1st degree relative (parent, sibling, child), or in a 2nd degree relative (grand parent, uncle, aunt)
3 i. DNA based evidence of a functional LDLR, PCSK9 and APOB mutation
A diagnosis of probable FH requires either (1), (2) or (3)
1 i. Cholesterol higher than 7.5 mmol/L or LDL-cholesterol above 4.9 mmol/L in adult
ii. Family History of myocardial infarction (MI) before 50 years of age in a 2nd degree relative or below age 60 in a 1st degree relative
2 i. Cholesterol higher than 6.7 mmol/L or LDL-cholesterol above 4.0 mmol/L in a child under 16 years of age
ii. Family History of myocardial infarction (MI) before 50 years of age in a 2nd degree relative or below age 60 in a 1st degree relative
3 i. A family history of raised total cholesterol - higher than 7.5 mmol/L in adult 1st or 2nd degree relative or higher than 6.7 mmol/L in a child or sibling aged under 16 years