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.