DLCN criteria for familial hypercholesterolemia
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Family history
First-degree relative with known premature coronary or vascular disease males < 55 years old; females < 60 years old) or a first-degree relative with known LDL-C above the 95th percentile
First-degree relative with tendinous xanthomata and/or arcus cornealis, or children < 18 years old with LDL-C above the 95th percentile
Clinical history
Patient with premature CAD males < 55 years old; females < 60 years old)
Patient with premature cerebral or peripheral vascular disease males < 55 years old; females < 60 years old)
Physical examination
Tendinous xanthomata
Arcus cornealis before age 45 years
LDL-C levels (without treatment)
LDL-C ≥ 8.5 mmol/L [ ≥ 325 mg/dL]
LDL-C 6.5-8.4 mmol/L [251-325 mg/dL]
LDL-C 5.0-6.4 mmol/L [191-250 mg/dL]
LDL-C 4.0-4.9 mmol/L [155-190 mg/dL]
DNA analysis
Functional mutation in the LDLR, apoB, or PCSK9 genes
Calculation
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