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. 2023 Dec 19;31(6):641–853. doi: 10.5551/jat.GL2022

Table 22. Diagnostic criteria for pediatric FH (under the age of 15).

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.
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).
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.
Probable FH cases require further scrutiny and lipid‐lowering therapy.