Table 3.
Dutch Lipid Clinic Network score criteria for diagnosis of heterozygous familial hypercholesterolemia: odds ratio of every item for the diagnosis of FH.
| Points | Odds ratio for FH (Civeira et al., 2008b) N = 825 | Odds ratio for FH, (Benn et al., 2016) Danish General population N = 98,098 | Odds ratio for FH, (Palacios et al., 2012) Hypercholesterolemic population N = 5,430 | Odds ratio for FH %(Trinder et al., 2019) HC subjects <55 yr + Myocardial infarction | |
|---|---|---|---|---|---|
| -First degree relative with known premature coronary heart disease or | 1 | NA | 1.3(0.9–2.0)* | NA | NA |
| -First degree relative with known LDL-C >95th percentile by age and gender for country | 1 | NA | 5.2(3.8–7.1)* | NA | NA |
| -First degree relative with tendon xanthoma and/or corneal arcus or | 2 | 7.8 | NA | NA | NA |
| -Child(ren) < 18 years with LDL-C > 96th percentile by age and gender for country | 2 | NA | NA | NA | NA |
| -Subject has premature coronary heart disease | 2 | NA | 3.2(1.8–5.6)* | NA | NA |
| -Subject has premature cerebral or peripheral vascular disease | 1 | NA | 0.8(0.3–1.9)* | NA | NA |
| Tendon Xanthoma | 6 | 3.7 | NA | NA | NA |
| Corneal arcus in a person <45 years | 4 | 2.6 | NA | NA | NA |
| LDL-C> 325 mg/dL | 8 | NA | 138 (60–318)† | NA | NA |
| LDL-C> 251–325 mg/dL | 5 | NA | 53(35–80)† | NA | NA |
| LDL-C>191–250 mg/dL | 3 | NA | 53(35–80)† | Na | NA |
| LDL-C> 155–190 mg/dL | 1 | NA | 25(19–34)† | NA | NA |
| Definite FH: DLCN >8 | NA | 24$ | 53,9$ | 74.3 | |
| Possible FH: DLCN 6–8 | NA | 6$ | 30,7$ | 37.4 | |
| Probable FH: DLCN 3–5 | 1,2$ | 23,9$ | 11.8 | ||
| Unlike FH: DLCN <3 | 0,07$ | 16,4$ | NA |
Table built with data from Civeira et al. (2008b), Palacios et al. (2012), Benn et al. (2016), and Trinder et al. (2019).
LDL-C denotes low density cholesterol, DLCN denotes Dutch Lipid Clinic Network. Premature coronary heart disease was considered <55 years, men; <60 years, women.
Odds ratios for each criterion are risk of carrying a variant in individuals fulfilling the specific criteria versus those not fulfilling the same criteria used as reference group.
Odds ratios in groups by low-density lipoprotein (LDL)-cholesterol levels are risk of carrying a variant in genes causing FH in individuals with an LDL-cholesterol level above the threshold compared those below.
Percentage of subjects with pathogenic variant causing FH according to DLCN category.