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. 2018 Aug 1;25(8):751–770. doi: 10.5551/jat.CR003

Table 3. Pediatric FH diagnostic criteria.

1. Hyper-LDL cholesterolemia: LDL-C level of ≥ 140 mg/dL when untreated
(If total cholesterol level is ≥ 220 mg/dL, measure the LDL-C level)
2. Family history of FH or premature CAD (blood relative closer than the two parents)

• Excluding secondary hyperlipidemia, if two items are satisfied, FH is diagnosed.
• During the growth phase, there are fluctuations in LDL-C; therefore, careful observation is required.
• In pediatric cases, there are few clinical symptoms such as xanthomatosis; therefore, it is important to investigate the family history for FH. Use the family survey results of those beyond the parents as a reference if necessary.
• Early CAD is defined as CAD with an onset at < 55 years of age for males and < 65 years of age in females, respectively
• If xanthoma is present, LDL-C is suspected to be extremely high (homozygote).