Table 5.
Comparison of Those With a P/LP FH Variant With Those Identified by Algorithms and the Remainder of the Cohort
| Variable | P/LP (N=280) | Mayo+FIND FH (N=285) | FIND FH only (N=254) | Mayo only (N=9936) | Remainder of cohort* (N=48 974) | P value |
|---|---|---|---|---|---|---|
| Age, y | ||||||
| Mean (SD) | 58.2 (13.97) | 60.8 (12.87) | 63.5 (12.42) | 63.8 (11.44) | 59.9 (14.05) | <0.0001† , ‡ , § , ¶ , # |
| Median (IQR) | 60.0 (48.0–68.0) | 62.0 (53.0–71.0) | 65.0 (58.0–71.0) | 65.0 (56.0–72.0) | 62.0 (51.0–71.0) | |
| Female sex, n (%) | 160 (57.1%) | 199 (69.8%) | 148 (58.3%) | 6246 (62.9%) | 28 674 (58.5%) | <0.0001§ , ** , †† |
| Race, n (%) | ||||||
| Black | 1 (0.4%) | 7 (2.5%) | 5 (2.0%) | 157 (1.6%) | 963 (2.0%) | 0.0441 |
| Other§§ | 0 (0.0%) | 1 (0.4%) | 2 (0.8%) | 68 (0.7%) | 404 (0.8%) | |
| White | 279 (99.6%) | 277 (97.2%) | 247 (97.2%) | 9711 (97.7%) | 47 607 (97.2%) | |
| Body mass index | ||||||
| N (missing) | 277 (3) | 285 (0) | 254 (0) | 9926 (10) | 48 825 (149) | <0.0001† , § , †† , ‡‡ |
| Mean (SD) | 31.1 (7.66) | 30.4 (6.94) | 31.4 (7.47) | 32.5 (52.11) | 33.8 (76.72) | |
| Median (IQR) | 31 (26–35) | 29 (26–33) | 30 (26–35) | 31 (27–36) | 31 (27–37) | |
| Lipid‐lowering therapy, n (%) | 90 (32.1%) | 160 (56.1%) | 57 (22.4%) | 5624 (56.6%) | 4863 (9.9%) | <0.0001 |
| Highest LDL‐C | ||||||
| Mean (SD) | 240.8 (87.44) | 288.0 (410.04) | 149.1 (29.67) | 231.8 (40.75) | 134.6 (30.88) | <0.0001* , † , § , || , ¶ , # , ** , †† , ‡‡ |
| Median (IQR) | 226 (176–286) | 254 (215–301) | 155 (131–172) | 219 (201–251) | 137 (113–159) | |
| HDL‐C | ||||||
| N (missing) | 260 (20) | 256 (29) | 236 (18) | 8740 (1196) | 43 961 (5013) | 0.0070 |
| Mean (SD) | 51.7 (14.82) | 54.3 (15.57) | 54.5 (15.44) | 51.6 (13.91) | 52.0 (15.44) | |
| Median (IQR) | 49 (41–62) | 52 (43–63) | 53 (43–64) | 50 (42–59) | 49 (41–60) | |
| Total cholesterol | ||||||
| N (missing) | 261 (19) | 257 (28) | 237 (17) | 8768 (1168) | 44 138 (4836) | |
| Mean (SD) | 292.3 (72.65) | 299.8 (54.39) | 218.6 (38.14) | 271.1 (39.54) | 208.8 (37.72) | |
| Median (IQR) | 281 (243–332) | 296 (267–332) | 223 (189–246) | 274 (246–295) | 210 (183–236) | |
| Triglycerides | ||||||
| N (missing) | 258 (22) | 255 (30) | 236 (18) | 8517 (1419) | 43 053 (5921) | <0.0001* , ‡ , § , || , ** , †† |
| Mean (SD) | 133.6 (67.52) | 163.1 (72.20) | 130.7 (56.89) | 166.4 (66.05) | 136.1 (62.79) | |
| Median (IQR) | 116 (84–169) | 145 (111–203) | 121 (89–159) | 156 (117–205) | 124 (90–170) | |
| Systolic blood pressure | ||||||
| N (missing) | 278 (2) | 285 (0) | 254 (0) | 9932 (4) | 48 893 (81) | <0.0001‡ , § , ‡‡ |
| Mean (SD) | 124.3 (15.15) | 127.5 (16.99) | 126.1 (13.67) | 128.0 (16.11) | 127.0 (15.72) | |
| Median (IQR) | 122 (112–132) | 126 (116–138) | 126 (118–134) | 126 (118–138) | 126 (118–136) | |
| Diastolic blood pressure | ||||||
| N (missing) | 278 (2) | 285 (0) | 254 (0) | 9932 (4) | 48 893 (81) | 0.0025 |
| Mean (SD) | 72.8 (9.95) | 74.4 (9.88) | 73.1 (9.40) | 74.1 (9.90) | 74.4 (9.97) | |
| Median (IQR) | 72 (66–80) | 76 (70–80) | 72 (68–80) | 74 (68–80) | 74 (68–80) | |
| Family history of heart disease, n (%) | 26 (9.3%) | 34 (11.9%) | 11 (4.3%) | 670 (6.7%) | 2870 (5.9%) | <0.0001* , § , || , †† |
| ASCVD, n (%) | 101 (36.1%) | 98 (34.4%) | 52 (20.5%) | 2870 (28.9%) | 9914 (20.2%) | <0.0001* , § , || , ¶ , †† , ‡‡ |
| Diabetes, n (%) | 72 (25.7%) | 79 (27.7%) | 64 (25.2%) | 3197 (32.2%) | 12 943 (26.4%) | <0.0001§ |
| CKD, n (%) | 38 (13.6%) | 59 (20.7%) | 41 (16.1%) | 2336 (23.5%) | 2336 (23.5%) | <0.0001‡ , § |
| Smoking status, n (%) | ||||||
| Current | 46 (16.4%) | 43 (15.1%) | 31 (12.3%) | 1647 (16.6%) | 7290 (14.9%) | 0.0040§ |
| Former | 94 (33.6%) | 102 (35.8%) | 100 (39.5%) | 3692 (37.2%) | 17 983 (36.7%) | |
| Never | 140 (50.0%) | 140 (49.1%) | 122 (48.2%) | 4593 (46.2%) | 23 668 (48.4%) | |
| Unknown | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 9 (0.0%) | |
| Missing | 0 | 0 | 1 | 4 | 24 | |
| Hypothyroidism, n (%) | 44 (15.7%) | 70 (24.6%) | 57 (22.4%) | 2450 (24.7%) | 9816 (20.0%) | <0.0001‡ , § |
ASCVD indicates atherosclerotic cardiovascular disease; CKD, chronic kidney disease; FIND, Flag, Identify, Network, Deliver; FH, familial hypercholesterolemia; HDL‐C, high‐density lipoprotein cholesterol; IQR, interquartile range; LDL‐C, low‐density lipoprotein cholesterol; and P/LP, pathogenic or likely pathogenic.
No variants identified through genomic screening and not flagged by either FIND FH or Mayo algorithms. Mayo only vs FIND FH only.
Mayo only vs Mayo + FIND FH.
Mayo only vs P/LP.
Mayo only vs none.
FIND FH only vs Mayo + FIND FH.
FIND FH only vs P/LP.
FIND FH only vs none.
Mayo + FIND FH vs P/LP.
Mayo + FIND FH vs none.
P/LP vs none.
Other includes 38% Asian, 24% Unknown, 20% American Indian or Alaska Native, and 18% Native Hawaiian or Other Pacific Islander.