Table 2

Demographics and comorbidities of individuals with lipodystrophy and individuals carrying the LMNA (p.R482Q) variant in the DiscovEHR cohort

GHS, all adult patients (N = 1,361,924)GHS-RGC DiscovEHR participants (N = 92,455)aOR (95% CI)GHS-RGC DiscovEHR lipodystrophy cases, no HIV (N = 24)bOR (95% CI)GHS-RGC DiscovEHR LMNA (p.R482Q) variant carriers (N = 16)cOR (95% CI)
Age (years)
 Mean (SD)51.32 (20.67)57.1 (17.7)56.83 (10.9)62.5 (9.01)
 Median50.958.756.6560.6
Sex, n (%)
 Male36,468 (39.44)36,468 (39.44)20 (20.2)3 (18.75)
 Female55,987 (60.55)55,987 (60.55)22 (83.33)13 (81.25)
BMI (kg/m2)
 Mean (SD)29.03 (7.40)31.2 (7.3)29.53 (6.12)25.7 (3.45)
 Median (min–max)27.8 (10–79.9)*30.1 (14.4–57.5)28.55 (19.8–44.8)26.0 (18.3–32.8)
Lipodystrophy1
 No1,361,852 (99.99)92,431 (99.97)4.39 (2.77–6.95) (P = 5.05 × 10−12)0 (0)NA12 (75)1,540.317 (457–5,183) (P < 1 × 10−12)
 Yes99 (0.00007)24 (0.026)24 (100)4 (25)
Hyperlipidemia2
 No1,052,782 (77.30)39,509 (42.73)5.30 (5.22–5.37) (P < 1 × 10−12)9 (56.25)1.24 (0.54–2.84) (P = 0.60423)1 (6.25)11.19 (1.47–84.7) (P = 3.18 × 10−3)
 Yes309,142 (22.69)52,946 (57.26)15 (62.5)15 (93.75)
Type 2 diabetes3
 No1,234,278 (90.62)69,678 (75.36)3.63 (3.57–3.69) (P < 1 × 10−12)10 (41.66)4.28 (1.90–9.64) (P = 1.27 × 10−4)3 (18.75)13.26 (3.77–46.5) (P = 1.47 × 10−7)
 Yes127,646 (9.37)22,777 (24.63)14 (58.33)13 (81.25)
Hypertension4
 No1,034,366 (75.94)41,975 (45.40)4.30 (4.25–4.36) (P < 1 × 10−12)10 (41.66)1.16 (0.51–2.62) (P = 0.71329)2 (12.5)12.47 (1.64–94.4) (P = 8.19 × 10−3)
 Yes327,558 (24.05)50,480 (54.59)14 (58.33)14 (87.5)
Nonalcoholic fatty liver5
 No1,328,261 (97.52)84,242 (91.11)4.76 (4.64–4.89) (P < 1 × 10−12)19 (79.16)2.70 (1.00–7.23) (P = 0.03958)12 (75)3.42 (1.10–10.6) (P = 0.02344)
 Yes33,663 (2.47)8,213 (8.88)5 (20.83)4 (25)
Medication use
 HMG-CoA reductase inhibitor272,332 (19.99)44,857 (48.51)4.31 (4.25–4.37) (P < 1 × 10−12)13 (54.16)1.25 (0.56–2.79) (P = 0.57971)16 (100)NA
 Metformin96,561 (7.09)19,451 (21.03)4.11 (4.04–4.19) (P < 1 × 10−12)10 (41.66)2.68 (1.91–6.03) (P = 0.01314)12 (75)11.26 (3.63–34.9) (P = 1.18 × 10−7)
 Insulin91,599 (6.72)19,718 (21.32)4.51 (4.43–4.59) (P < 1 × 10−12)10 (41.66)2.63 (1.17–5.93) (P = 0.01497)11 (68.75)8.45 (2.93–24.3) (P = 2.01 × 10−6)
  • Data are n (%) unless otherwise indicated. min–max, minimum–maximum.

  • * Extreme outlier BMI values <10 or >80 kg/m2 were considered likely EHR entry errors and excluded from these calculations.

  • 1 Lipodystrophy defined as having clinical diagnosis code for ICD-9 272.6/ICD-10 E88.1;

  • 2 hyperlipidemia is defined as having at least one diagnosis code of ICD-9 272/ICD-10 E78;

  • 3 diabetes is defined as having at least one diagnosis code of ICD-9 250/ICD-10 E11;

  • 4 hypertension is defined as having at least one diagnosis code of ICD-9 401/ICD-10 I10;

  • 5 nonalcoholic fatty liver is defined as having at least one diagnosis code of ICD-9 571.8/ICD-10 K75.8 and K76. ORs (95% CI) and significance were calculated comparing values for the following groups:

  • a DiscovEHR all vs. Geisinger all,

  • b DiscovEHR lipodystrophy vs. DiscovEHR all, and

  • c LMNA p.R482Q carriers vs. DiscovEHR all.