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 95^th percentile	1
First-degree relative with tendinous xanthomata and/or arcus cornealis, or Children <18 years of age with LDL-C above the 95^th percentile	2
2) 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
3) Physical examination
Tendinous xanthomata	6
Arcus cornealis before age 45 years	4
4) 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
5) DNA analysis
Functional mutation in the LDLR, apoB, or PCSK9 gene	8
Choose only one score per group, the highest applicable diagnosis (diagnosis is based on the total number of points obtained) A "definite" FH diagnosis requires >8 points A "probable" FH diagnosis requires 6 to 8 points A "possible" FH diagnosis requires 3 to 5 points

FH: familial hypercholesterolaemia; LDL-C: low-density lipoprotein-cholesterol.
* Exclusive of each other (ie, maximum six 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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Dutch Lipid Clinic Network diagnostic criteria for familial hypercholesterolaemia