Table 1.

Dutch Lipid Clinic Network criteria for diagnosis of heterozygous familial hypercholesterolaemia in adults

Group 1: family history	Points
(i) First-degree relative with known premature (<55 years, men; <60 years, women) coronary heart disease (CHD) OR	1
(ii) First-degree relative with known LDL cholesterol >95th percentile by age and gender for country	1
(iii) First-degree relative with tendon xanthoma and/or corneal arcus OR	2
(iv) Child(ren) <18 years with LDL cholesterol >95th percentile by age and gender for country	2
Group 2: clinical history
(i) Subject has premature (<55 years, men; <60 years, women) CHD	2
(ii) Subject has premature (<55 years, men; <60 years, women) cerebral or peripheral vascular disease	1
Group 3: physical examination
(i) Tendon xanthoma	6
(ii) Corneal arcus in a person <45 years	4
Group 4: biochemical results (LDL cholesterol)
>8.5 mmol/L (>325 mg/dL)	8
6.5–8.4 mmol/L (251–325 mg/dL)	5
5.0–6.4 mmol/L (191–250 mg/dL)	3
4.0–4.9 mmol/L (155–190 mg/dL)	1
Group 5: molecular genetic testing (DNA analysis)
(i) Causative mutation shown in the LDLR, APOB, or PCSK9 genes	8

A ‘definite FH’ diagnosis can be made if the subject scores >8 points. A ‘probable FH’ diagnosis can be made if the subject scores 6 to 8 points. A ‘possible FH’ diagnosis can be made if the subject scores 3 to 5 points. An ‘unlikely FH’ diagnosis can be made if the subject scores 0 to 2 points. Use of the diagnostic algorithm: per group only one score, the highest applicable, can be chosen. For example, when coronary heart disease and tendon xanthoma as well as dyslipidaemia are present in a family, the highest score for family history is 2. However, if persons with elevated LDL cholesterol levels as well as premature coronary heart disease are present in a family, but no xanthoma or children with elevated LDL cholesterol levels or a causative mutation are found, then the highest score for family history remains 1.