Red Book

Appendix 2B

Dutch Lipid Clinic Network Criteria for making a diagnosis of familial hypercholestrolaemia in adults

  Score
Family history
First-degree relative with known premature coronary and/or vascular disease (men aged <55 years and women aged <60 years) or
First-degree relative with known low-density lipoprotein-cholesterol  (LDL-C) above the 95th percentile  for age and sex
1
First-degree relative with tendinous xanthomata and/or arcus cornealis or
Children aged <18 years with LDL-C above the 95th percentile for age and sex
2
Clinical history
Patient with premature coronary artery disease (ages as above) 2
Patient with premature cerebral or peripheral vascular disease (as above) 1
Physical examination
Tendinous xanthomata 6
Arcus cornealis prior to 45 years of age 4
LDL-C (mmol/L)
  LDL-C ≥8.5 8
LDL-C 6.5–8.4 5
LDL-C 5.0–6.4 3
LDL-C 4.0–4.9 1
Deoxyribonucleic acid (DNA) analysis: Functional mutation in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9) gene 8
Stratification Total score
Definite familial hypercholesterolaemia (FH) >8
Probable FH 6-7
Possible FH 3-5
Unlikely FH <3
ApoB, apolipoprotein B; DNA, deoxyribonucleic acid; FH, familial hypercholesterolaemia; LDL-C, low-density lipoprotein-cholesterol; LDLR, low-density lipoprotein receptor; PCSK9, proprotein convertase subtilisin/kexin type 9

Reproduced with permission from Elsevier from Watts GF, Sullivan DR, Poplawski N, et al. Familial Hypercholesterolaemia Australasia Network Consensus Group (Australian Atherosclerosis Society). Familial hypercholesterolaemia: A model of care for Australasia. Atheroscler Suppl 2011;12(2):221–63.
 

Modified UK Simon Broome criteria

  1. Deoxyribonucleic acid (DNA) mutation
  2. Tendon xanthomas in patient or first-degree or second-degree relative
  3. Family history myocardial infarction (MI) <50 years of age in second-degree relative or <60 years of age in  first-degree relative
  4. Family history of cholesterol >7.5 in first-degree or second-degree relative
  5. Cholesterol >7.5 (adult) or >6.7 (aged <16 years)
  6. Low-density lipoprotein-cholesterol >4.9 (adult) or >4.0 (aged <16 years)

Definite: (5 or 6) + 1

Probable: (5 or 6) + 2

Possible familial hypercholesterolaemia: (5 or 6) + (3 or 4)