Familial Hypercholesterolaemia

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Simon Broome criteria

Simone Broome (SB) Criteria for diagnosis of Familial Hypercholesterolaemia

Definite FH is defined as:

Possible familial hypercholesterolemia is defined as:

a) Total cholesterol above 7.5mmol/L or low-density lipoproteins (LDL) cholesterol above 4.9 mmol/L in an adult.

(Levels either pre-treatment or highest on treatment).

b) Total cholesterol above 6.7 mmol/L or LDL cholesterol above 4.0 mmol/L in a child < 16 years

a) Total cholesterol above 7.5mmol/L or LDL cholesterol above 4.9 mmol/L in an adult.

(Levels either pre-treatment or highest on treatment).

b) Total cholesterol above 6.7 mmol/L or LDL cholesterol above 4.0 mmol/L in a child < 16 years

PLUS either

PLUS either

c) Tendon xanthomas in patient, or in 1st degree relative (parent, sibling, child), or in 2nd degree relative (grandparent, uncle, aunt)

OR

c) DNA-based evidence of an LDL receptor mutation, familial defective APOB-100 mutation or PCSK9 mutation

c) Family history of myocardial infarction: below age of 50 in 2nd degree relative or below age 60 in 1st degree relative.

OR

e) Family history of raised cholesterol: above 7.5 mmol/L in adult 1st or 2nd degree relative or

above 6.7 mmol/L in child or sibling under 16.

Editorial Information

Last reviewed: 31 October 2015

Next review: 31 October 2017

Author(s): Department of Cardiology

Approved By: High-UHB.tam@nhs.net

Reviewer Name(s): Dr Van Drimmelen

Document Id: TAM136