1. Hyper-LDL cholesterolemia (untreated LDL-C level ≥ 140 mg/dL, confirmed multiple times) |
2. Family history of FH (Parents or siblings) |
3. Parental LDL-C ≥ 180 mg/dL or family history of premature coronary artery disease (Grandparent or parent) |
After ruling out other primary and secondary Hyper‐LDL cholesterolemia, |
‐ Diagnose FH with items 1 and 2. |
‐ Diagnose probable FH with item 1 and 3. If the individual’s LDL‐C is 180 mg/dL or higher, FH is diagnosed. |
‐ Even if only criteria 1 is used, a diagnosis of FH above 250 mg/dL and a diagnosis of probable FH above 180 mg/dL should be made. |
•Differentiate HoFH when LDL‐C is ≥ 250 mg/dL or xanthomas are present.
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•Diagnose FH if the individual has a pathogenic gene mutation for FH. If a parent, a brother, or a sister is found to have a pathogenic gene mutation for FH, that is considered to be the family history of FH (item 2).
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•Premature coronary artery disease is defined as coronary artery disease occurring at less than 55 years of age in men and less than 65 years of age in women.
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•Probable FH cases require further scrutiny and lipid‐lowering therapy.
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