Figure 1
Timeline of stepwise identification pathway for familial hypercholesterolemia from hospital to community in a resource-limited setting. At the stepwise hospital-based FH identification, DLCN criteria (based on clinical data only) were applied. Only individuals with definite or probable FH proceeded to further evaluation. Subsequently, only patients with confirmed FH-causing mutations identified in the prospective cohort who agreed to act as stakeholders were selected for community-based FH screening. DLCN, Dutch Lipid Clinic Network; DoH, Department of Health; FH, familial hypercholesterolemia; HDL-C, high-density lipoprotein cholesterol; LDL-C, low-density lipoprotein cholesterol; TC, total cholesterol; TG, triglyceride; VNHI, Vietnam National Heart Institute.
Table 1
Detection yield of phenotypic familial hypercholesterolemia among patients with premature coronary artery disease in retrospective and prospective hospital-based cohorts.
| CHARACTERISTICS | RETROSPECTIVE SCREENING (n = 972) | PROSPECTIVE SCREENING (n = 180) | P-VALUE |
|---|---|---|---|
| Phenotypic FH, n (%) | 24 (2.5) | 15 (8.3) | <0.001 |
| Definite FH (DLCN >8), n (%) | 11 (1.1) | 9 (5) | <0.001 |
| Probable FH (DLCN 6–8), n (%) | 13 (1.3) | 6 (3.3) | 0.149 |
| Odds ratio for FH detection (95% CI) | Reference | 3.59 (1.84–6.99) |
[i] FH, familial hypercholesterolemia; DLCN, Dutch Lipid Clinic Network; CI, confidence interval. Data are presented as n (%). P-values were calculated using the chi-square test.
Figure 2
Distributions of cholesterol levels in community-based screening linked to an index case. FH, familial hypercholesterolemia; LDL-C, low-density lipoprotein cholesterol.
Supplementary Table S1
Availability and distribution of selected DLCN components in retrospective and prospective hospital-based cohorts.
| CHARACTERISTICS | RETROSPECTIVE SCREENING (n = 972) | PROSPECTIVE SCREENING (n = 180) |
|---|---|---|
| Family history | ||
| First-degree relative with premature CAD and/or vascular disease | 1 (0.1) | 9 (5) |
| First-degree relative with known LDL-C > 95th percentile for age and sex | 1 (0.1) | 6 (3.3) |
| First-degree relative with tendon xanthoma and/or arcus cornealis | N/A | 0 |
| Children < 18 years with known LDL-C > 95th percentile for age and sex | N/A | 1 (0.6) |
| Clinical history | ||
| Patient with premature cerebral or peripheral | 1 (0.1) | 3 (1.7) |
| Physical Examination | ||
| Tendon xanthomata | N/A | 7 (3.9) |
| Arcus cornealis at age < 45 years | N/A | 10 (5.6) |
[i] CAD, coronary artery disease; DLCN, Dutch Lipid Clinic Network; LDL-C, low density lipoprotein-cholesterol. Data are presented as n (%). “N/A” indicates that the variable was not systematically recorded in the retrospective cohort. Due to the retrospective design, documentation of several DLCN components—particularly family history and physical examination findings—was limited, which may have led to under-ascertainment in the retrospective cohort.