p.39 抽出テキスト

Table 11 Genetic disorders of lipoprotein metabolism

Disorder Prevalence Gene(s) Effect on lipoproteins HeFH 1 in 200250 LDLR

APO B PCSK9 "LDL-C

HoFH 1 in 160 000320 000 LDLR

APO B PCSK9 ""LDL-C

FCH 1 in 100/200 USF1 þ modifying genes "LDL-C "VLDL-C "ApoB Familial dysbetalipoproteinaemia 1 in 5000 APO E ""IDL and chylomicron remnants (bVLDL) Familial lipoprotein lipase deficiency (familial chylomicron syndrome) 2 in 106 LPL

APO C2 ApoAV, GPIHBP1 LMF1 ""chylomicrons and VLDL-C

Tangier disease (analphalipoproteinaemia) 1 in 106 ABCA1 ##HDL-C Familial LCAT deficiency 1 in 106 LCAT #HDL-C Apo = apolipoprotein; FCH = familial combined hyperlipidaemia; HDL-C = high-density lipoprotein cholesterol; HeFH = heterozygous familial hypercholesterolaemia; HoFH = homozygous familial hypercholesterolaemia; IDL = intermediate-density lipoprotein; LCAT = lecithin cholesterol acyltransferase; LDL-C = low-density lipoprotein cholesterol; VLDL = very low-density lipoprotein cholesterol.

Table 12 Dutch Lipid Clinic Network diagnostic criteria for familial hypercholesterolaemia

Criteria Points 1) Family history First-degree relative with known premature (men aged <55 years; women <60 years) coronary or vascular disease, or first-degree relative with known LDL-C above the 95th percentile 1 First-degree relative with tendinous xanthomata and/or arcus cornealis, or children aged <18 years with LDL-C above the 95th percentile 2 2) Clinical history Patient with premature (men aged <55 years; women <60 years) CAD 2 Patient with premature (men aged <55 years; women <60 years) cerebral or peripheral vascular disease 1 3) Physical examinationa Tendinous xanthomata 6 Arcus cornealis before age 45 years 4 4) LDL-C levels (without treatment) LDL-C >_8.5 mmol/L (>_325 mg/dL) 8 LDL-C 6.58.4 mmol/L (251325 mg/dL) 5 LDL-C 5.06.4 mmol/L (191250 mg/dL) 3 LDL-C 4.04.9 mmol/L (155190 mg/dL) 1 5) DNA analysis Functional mutation in the LDLR, apoB, or PCSK9 genes 8 Choose only one score per group, the highest applicable; diagnosis is based on the total number of points obtained A ‘definite’ FH diagnosis requires >8 points A ‘probable’ FH diagnosis requires 68 points A ‘possible’ FH diagnosis requires 35 points CAD = coronary artery disease; FH = familial hypercholesterolaemia; LDL-C = low-density lipoprotein cholesterol; PCSK9 = proprotein convertase subtilisin/kexin type 9. aExclusive of each other (i.e. maximum 6 points if both are present). Downloaded from academic.oup.com/eurheartj/article/41/1/111/5556353 by guest on 07 October 2026