Table 1 –
Demographic, clinical and genetic characteristics and plasma lipid levels in HoFH patients, overall and stratified by country income status
| Overall | High-income countries | Non-high-income countries | |
|---|---|---|---|
| N=751 | N=398 | N=353 | |
| Age of FH diagnosis (years) | 12∙0 [5∙5–27∙0] 18∙0 (16∙8–19∙2) |
16∙0 [6∙0–33∙0] 20∙7 (18∙9–22∙5) |
10∙0 [5∙0–20∙0] 15∙1 (13∙6–16∙7) |
| Women | 389 (52∙1%) | 205 (51∙5%) | 184 (52∙9%) |
| Xanthomas at diagnosis | 516 (68∙7%) | 255 (64∙1%) | 261 (73∙9%) |
| Body mass index (kg/m2) | 24∙0 (23∙4–24∙6) | 24∙0 (23∙2–24∙8) | 24∙0 (23∙1–24∙9) |
| Diabetes mellitus | 23 (3∙6%) | 15 (5∙2%) | 8 (2∙3%) |
| Hypertension | 93 (14∙5%) | 41 (14∙0%) | 52 (14∙9%) |
| Chronic kidney disease | 6 (1∙2%) | 5 (2∙2%) | 1 (0∙4%) |
| Current smoker | 43 (7∙8%) | 25 (8∙7%) | 18 (6∙8%) |
| Previous smoker | 54 (9∙8%) | 31 (10∙8%) | 23 (8∙7%) |
| Lipids (mmol/L) | |||
| Untreated | |||
| Total cholesterol | 16∙2 [13∙1–20∙0] 16∙8 (16∙3–17∙2) |
15∙5 [12∙4–19∙3] 16∙4 (15∙8–17∙0) |
17∙2 [14∙6–20∙6] 17∙6 (16∙9–18∙2) |
| LDL-C | 14∙7 [11∙6–18∙4] 15∙2 (14∙8–15∙6) |
13∙5 [10∙4–17∙2] 14∙2 (13∙6–14∙9) |
15∙8 [12∙9–19∙2] 16∙2 (15∙6–16∙7) |
| HDL-C | 1∙00 [0∙78–1∙26] 1∙05 (1∙01–1∙09) |
1∙03 [0∙80–1∙27] 1∙05 (1∙00–1∙09) |
0∙93 [0∙70–1∙21] 1∙05 (0∙97–1∙13) |
| Triglycerides | 1∙20 [0∙88–1∙70] 1∙41 (1∙33–1∙50) |
1∙19 [0∙85–1∙65] 1∙38 (1∙27–1∙51) |
1∙23 [0∙90–1∙79] 1∙46 (1∙33–1∙60) |
| Most recent ** | |||
| Total cholesterol | 9∙0 [5∙8–13∙0] 9∙7 (9∙3–10∙1) |
6∙7 [4∙9–9∙1] 7∙4 (7∙0–7∙9) |
12∙3 [8∙9–15∙4] 12∙3 (11∙7–12∙9) |
| LDL-C | 7∙7 [4∙6–11∙5] 8∙3 (8∙0–8∙7) |
4∙9 [3∙0–7∙5] 5∙7 (5∙3–6∙1) |
10∙1 [7∙4–13∙2] 10∙5 (11∙0–10∙9) |
| LDL-C below guideline-recommended goals*** | 42 (7∙2%) | 38 (14∙6%) | 4 (1∙2%) |
| Lowest recorded level † | |||
| Total cholesterol | 7∙6 [4∙9–11∙1] 8∙7 (8∙2–9∙1) |
5∙6 [4∙1–7∙6] 6∙3 (5∙9–6∙7) |
10∙7 [7∙9–14∙7] 11∙3 (10∙7–11∙9) |
| LDL-C | 6∙6 [3∙6–10∙4] 7∙5 (7∙1–7∙9) |
3∙9 [2∙6–5∙8] 4∙7 (4∙3–5∙0) |
9∙3 [6∙7–12∙7] 9∙8 (9∙3–10∙3) |
| LDL-C below guideline-recommended goals*** | 64 (10∙9%) | 56 (21∙4%) | 8 (2∙5%) |
| Genetic information available †† | 565 (75∙2%) | 367 (92∙2%) | 198 (56∙1%) |
Data are shown as n (%) for categorical variables or as median [IQR]. In addition, numbers in italic describe quantitative variables as bootstrapped means (95%).Classification of high- and non-high-income countries is shown in Table S1. FH, familial hypercholesterolaemia; LDL-C, low-density lipoprotein cholesterol; HDL-C, high-density lipoprotein cholesterol
This reflects the most recent measurement available after diagnosis and prior to data entry in the registry.
LDL-C below guideline-recommended goals is defined as an LDL-C level< 2∙5 mmol/L in primary prevention or < 1∙8 mmol/L in case of secondary prevention.
This reflects the lowest recorded LDL-C measurement between untreated (at diagnosis) and most recent measurement. When unavailable, the most recent measurement itself was considered the lowest.
For details see Table S2 in the online supplement.