Characteristics of patients with heterozygous familial hypercholesterolemia, September 2017 to September 2021
| Characteristic | No. (%) of patients* | p value† | ||
|---|---|---|---|---|
| Overall n = 335 | Index n = 288 | Identified via cascade screening n = 47 | ||
| Male sex | 184 (54.9) | 157 (54.5) | 27 (57.4) | 0.7** |
| Age at registration, mean ± SD, yr | 50 ± 15 | 51 ± 15 | 41 ± 15 | < 0.001†† |
| Age at diagnosis, mean ± SD, yr | 40 ± 16 (n = 324) | 41 ± 16 (n = 277) | 30 ± 17 | < 0.001†† |
| Smoker | 31 (9.2) (n = 334) | 27 (9.4) | 4 (8.7) (n = 46) | 0.9** |
| Hypertension | 75 (22.5) (n = 334) | 71 (24.7) (n = 287) | 4 (8.5) | 0.01** |
| Diabetes | 33 (9.8) | 31 (10.8) | 2 (4.3) | 0.1** |
| CAD | 97 (29.0) | 93 (32.3) | 4 (8.5) | < 0.001** |
| Tendon xanthomas | 80 (23.9) | 70 (24.3) | 10 (21.3) | 0.6** |
| Receiving lipid-lowering therapy at registration | 255 (76.1) | 223 (77.4) | 32 (68.1) | 0.2** |
| Family history of CAD | 238 (72.8) (n = 327) | 201 (71.8) (n = 280) | 37 (78.7) | 0.3** |
| Family history of dyslipidemia | 283 (89.0) (n = 318) | 236 (87.1) (n = 271) | 47 (100.0) | 0.009** |
| NGS full FH DNA testing‡ | 229 (68.4) | 189 (65.6) | 40 (85.1) | 0.008** |
| Self-reported ethnicity | ||||
| European | 257 (81.8) (n = 314) | 222 (82.8) (n = 268) | 35 (76.1) (n = 46) | 0.3** |
| French-Canadian descent | 172 (54.8) (n = 314) | 149 (55.6) (n = 268) | 23 (50.0) (n = 46) | 0.5** |
| Middle Eastern | 25 (8.0) (n = 314) | 18 (6.7) (n = 268) | 7 (15.2) (n = 46) | 0.07** |
| Southeast Asian | 9 (2.9) (n = 314) | 6 (2.2) (n = 268) | 3 (6.5) (n = 46) | 0.2** |
| African/African American | 7 (2.2) (n = 314) | 6 (2.2) (n = 268) | 1 (2.2) (n = 46) | 1.0** |
| Latin American | 4 (1.3) (n = 314) | 4 (1.5) (n = 268) | 0 (0.0) (n = 46) | 0.3** |
| Other or mixed ethnicity | 12 (3.8) (n = 314) | 12 (4.5) (n = 268) | 0 (0.0) (n = 46) | 0.05** |
| Lipid profile at registration | ||||
| Total cholesterol level, mean ± SD, mmol/L | 5.73 ± 2.22 | 5.66 ± 2.22 | 6.14 ± 2.16 | 0.2†† |
| LDL-C level, mean ± SD, mmol/L | 3.61 ± 2.05 (n = 333) | 3.51 ± 2.02 (n = 286) | 4.27 ± 2.15 | 0.02†† |
| Triglyceride level, median (Q1–Q3), mmol/L | 1.30 (0.98–2.12) | 1.32 (0.99–2.19) | 1.23 (0.92–1.76) | 0.1‡‡ |
| HDL-C level, mean ± SD, mmol/L | 1.31 ± 0.37 | 1.31 ± 0.37 | 1.28 ± 0.37 | 0.6†† |
| Apolipoprotein B level, mean ± SD, g/L | 1.19 ± 0.48 (n = 290) | 1.16 ± 0.46 (n = 246) | 1.34 ± 0.57 (n = 44) | 0.02†† |
| Lipoprotein(a) level, median (Q1–Q3), mg/L | 349 (127–867) (n = 271) | 342 (125–859) (n = 227) | 411 (137–956) (n = 44) | 0.5‡‡ |
| Untreated lipid profile§ | ||||
| Total cholesterol level, mean ± SD, mmol/L | 8.99 ± 1.75 (n = 288) | 9.05 ± 1.76 (n = 248) | 8.67 ± 1.66 (n = 40) | 0.2†† |
| LDL-C level, mean ± SD, mmol/L¶ | 6.96 ± 1.79 | 6.95 ± 1.79 | 6.99 ± 1.77 | 0.9†† |
| Triglyceride level, median (Q1–Q3), mmol/L | 1.63 (1.05–2.37) (n = 281) | 1.71 (1.12–2.43) (n = 242) | 1.30 (0.83–2.05) (n = 39) | 0.009‡‡ |
| HDL-C level, mean ± SD, mmol/L | 1.29 ± 0.36 (n = 284) | 1.31 ± 0.36 (n = 244) | 1.20 ± 0.30 (n = 40) | 0.06†† |
| Apolipoprotein B level, mean ± SD, g/L | 1.90 ± 0.49 (n = 135) | 1.88 ± 0.48 (n = 114) | 2.01 ± 0.55 (n = 21) | 0.3†† |
Note: CAD = coronary artery disease, FH = familial hypercholesterolemia, HDL-C = high-density lipoprotein cholesterol, LDL = low-density lipoprotein cholesterol, NGS = next-generation sequencing, Q = quartile, SD = standard deviation.
↵* Except where noted otherwise.
↵† For difference between index group and cascade screening group.
↵‡ Refers to patients whose DNA sample was sent to the Core Molecular Diagnostic Laboratory, McGill University Health Centre, for screening of variants causing FH.
↵§ Based on data available from chart review.
↵¶ Imputed when untreated LDL-C values were missing (n = 39).
↵** χ2 test.
↵†† Student t test.
↵‡‡ Mann–Whitney test.