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10 | Chapter 1 Table 1 | Dutch Lipid Clinic Network diagnostic criteria for Familial Hypercholesterolemia(15) Criteria Points Family History First-degree relative with known premature coronary and vascular disease, OR First-degree relative with known LDL-C level above the 95th percentile* 1 First-degree relative with tendinous xanthomata and/or arcus cornealis, OR Children aged less than 18 years with LDL-C level above the 95th percentile 2 Clinical History Patient with premature coronary artery disease* 2 Patient with premature cerebral or peripheral vascular disease 1* 1 Physical examination Tendinous xanthomata 6 Arcus cornealis prior to age 45 years 4 Cholesterol levels mg/dl (mmol/liter) LDL-C >= 330 mg/dL ( ≥8.5) 8 LDL-C 250 – 329 mg/dL (6.5–8.4) 5 LDL-C 190 – 249 mg/dL (5.0–6.4) 3 LDL-C 155 – 189 mg/dL (4.0–4.9) 1 DNA analysis Functional mutation in the LDLR, apo B or PCSK9 gene 8 Diagnosis (diagnosis is based on the total number of points obtained) Definite Familial Hypercholesterolemia >8 Probable Familial Hypercholesterolemia 6-8 Possible Familial Hypercholesterolemia 3-5 Unlikely Familial Hypercholesterolemia <3 1 * Premature = < 55 years in men; < 60 years in women LDL-C = low density lipoprotein cholesterol FH, familial hypercholesterolemia LDLR = low density lipoprotein receptor Apo B = apolipoprotein B PCSK9 = Proprotein convertase subtilisin/kexin type 9 Cardiovascular imaging One approach is to detect subclinical atherosclerosis in asymptomatic persons with FH. Advanced atherosclerosis on cardiovascular imaging might identify FH patients, who are at exceptional risk of developing cardiovascular events. Atherosclerotic lesions can be visualized by numerous imaging modalities. Among the commonly used methods are carotid ultrasonography and computed tomography coronary angiography (CTCA).