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Clinical guidelines

Guidelines for preventive activities in general practice 9th edition

Appendix 2B. Dutch Lipid Clinic Network Criteria for making a diagnosis of familial hypercholestrolaemia in adults

This risk assessment focuses on your close relatives including parents, children, brothers and sisters who are either living or dead.
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) ≥8.5 8
LDL-C (mmol/L) 6.5 - 8.4 5
LDL-C (mmol/L) 5.0 - 6.4 3
LDL-C (mmol/L) 4.0 - 4.9 1
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 8
StratificationTotal 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)

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