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 |