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Dutch Lipid Clinic Network diagnostic criteria for familial hypercholesterolaemia

Dutch Lipid Clinic Network diagnostic criteria for familial hypercholesterolaemia
Criteria Points
  1. Family history
  • First-degree relative with known premature (men: <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 <18 years of age with LDL-C above the 95th percentile
 2
  1. Clinical history
  • Patient with premature (men: <55 years; women: <60 years) coronary artery disease
 2
  • Patient with premature (men: <55 years; women: <60 years) cerebral or peripheral vascular disease
 1
  1. Physical examination*
  • Tendinous xanthomata
 6
  • Arcus cornealis before age 45 years
 4
  1. LDL-C levels
  • LDL-C ≥8.5 mmol/L (325 mg/dL)
 8
  • LDL-C 6.5 to 8.4 mmol/L (251-325 mg/dL)
 5
  • LDL-C 5 to 6.4 mmol/L (191-250 mg/dL)
 3
  • LDL-C 4 to 4.9 mmol/L (155-190 mg/dL)
 1
  1. DNA analysis
  • Functional mutation in the LDLR, apoB, or PCSK9 gene
 8

Choose only one score per group (the choice with the highest applicable score).

The interpretation is based on the total number of points:

  • >8 points: Definite FH
  • 6 to 8 points: Probable FH
  • 3 to 5 points: Possible FH
  • <3 points: Unlikely FH

FH: familial hypercholesterolaemia; LDL-C: low-density lipoprotein-cholesterol.

* Exclusive of each other (ie, maximum 6 points if both are present).

Reprinted from: Familial hypercholesterolaemia (FH): report of a second WHO consultation, Geneva, 4 September 1998. World Health Organization, p. 13, Copyright © 1998. Available at: http://apps.who.int/iris/handle/10665/66346 (Accessed on April 9, 2013).
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