Table 2. Identification of potential FH
High LDL-C population (LDL-C ≥5.0 mmol/l), n %High LDL-C without potential secondary cause (subgroup), n %
Cardiovascular profile
Total236 (100)115 (100)
Ischaemic heart disease41 (17.4)24 (20.9)
 MI11 (26.8)8 (33.3)
 AP22 (53.7)13 (54.2)
 CHF8 (19.5)5 (20.8)
 PCI12 (29.2)9 (37.5)
 CABG4 (9.8)3 (12.5)
Cerebral vascular disease31 (13.1)13 (11.3)
Peripheral artery disease15 (6.4)7 (6.1)
Criteria for clinical FH (DLCN)
Past medical history
Premature ischaemic heart disease15 (6.4)8 (7.0)
Premature cerebrovascular disease7 (3.0)2 (1.7)
Premature peripheral artery disease4 (1.7)2 (1.7)
Clinical features
Tendon xanthomas0 (0.0)0
Arcus cornealis1 (0.4)1 (0.9)
Family medical history
Family history of ischaemic heart disease51 (21.6)36 (31.3)
Family history of cerebral vascular disease13 (5.5)9 (7.8)
Family history of peripheral artery disease4 (1.7)2 (1.7)
Family history of hyperlipidaemia27 (11.4)17 (14.8)
No family history available84 (35.6)48 (41.7)
Result of screening
Definite FH – DLCN score >822 (9.3)15 (13.0)
Probable FH – DLCN score 6–712 (5.1)6 (5.2)
Possible FH – DLCN score 3–5202 (85.6)94 (81.7)
Actual diagnostic yield
Confirmed diagnosis of FH3 (1.3)1 (0.9)
FH suspected by GP26 (11.0)22 (19.1)
  • Subgroup has been derived from the high LDL-C population. Information has been obtained by reading the patient records for all the patients. AP = angina pectoris. CABG = coronary artery by-pass grafting. CHF = congestive heart failure. DLCN = Dutch Lipid Clinic Network. FH = familial hypercholesterolaemia. MI = myocardial infarction. PCI = percutaneous intervention.