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. 2022 Jul 7;11(3):213–228. doi: 10.12997/jla.2022.11.3.213

Table 4. EAS diagnostic criteria for HoFH.

Criteria
1) Genetic confirmation of 2 mutant alleles at LDLR, APOB, PCSK9, or LDLRAP1 or
2) An untreated LDL-C >13 mmol/L (500 mg/dL) or treated LDL-C >8 mmol/L (300 mg/dL)* with either:
Cutaneous or tendon xanthoma at age <10 yr or
Untreated elevated LDL-C consistent with HeFH in both parents

EAS, European Atherosclerosis Society; HeFH, heterozygous familial hypercholesterolemia; HoFH, homozygous familial hypercholesterolemia; LDL-C, low-density lipoprotein-cholesterol.

*These LDL-C are only indicative, and lower levels, especially in children or in treated patients, do not exclude HoFH.