The Simon Broome Register in the United Kingdom uses certain criteria for the diagnosis of familial hypercholesterolemia.
Major criteria - one or more of the following:
(1) serum total cholesterol > 290 mg/dL in an adult
(2) serum total cholesterol > 260 mg/dL in a pediatric patient (< 16 years old)
(3) serum LDL cholesterol > 190 mg/dL in an adult
(4) serum LDL cholesterol > 155 mg/dL in a pediatric patient (< 16 years old)
Additional criteria:
(1) mutation in LDL-receptor, apo B or PCSK9
(2) tendon xanthoma in the patient
(3) tendon xanthoma in a first or second-degree relative
(4) family history of myocardial infarction at < 50 years of age in a second-degree relative
(5) family history of myocardial infarction at < 60 years of age in first-degree relative
(6) serum total cholesterol > 290 mg/dL in a first or second-degree adult relative
(7) serum total cholesterol > 260 mg/dL in a child, brother or sister < 16 years of age
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Major Criteria
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Additional Criteria
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Familial Hypercholesterolemia
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>= 1
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1
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definite
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|
>= 1
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2 or 3
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definite
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|
>= 1
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4 or 5
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possible
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|
>= 1
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6 or 7
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possible
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