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Table 1 Comparison of clinical characteristics and laboratory results of patients

From: Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy

  Homozygous LMNA p.R582H
(n = 1)
Heterozygous LMNA p.R582H
(n = 1)
CGL1
(n = 9)
Typical FPLD2
(n = 8)
Age (years) 29 48 25 (18–34) 49 (32–62)
BMI (kg/m2) 19.20 27.28 19.53 (16.61–22.20) 23.22 (19.53–26.20)
The age when lipodystrophy was diagnosed (years) 29 33 16 (1–31) 49 (12–60)
The age when diabetes developed (years) 17 32 14 (6–25) 33 (21–51)
Oral antidiabetic use (Yes/No) Yes Yes 8/1 9/9
Insulin (Yes/No) No No 9/0 5/3
Complications of diabetes (Yes/No) No No 8/1 7/1
The age when hypertriglyceridemia was first detected (years) 20 33 16 (6–26) 37 (20–51)
Lipid medication (Yes/No) Yes Yes 9/9 6/2
History of pancreatitis (Yes/No) No Yes 3/6 1/7
The age when hepatic steatosis was first detected (years) 29 33 17 (6–29) 35 (20–51)
HbA1c (%) 7.9 6.2 10.4 (7.6–11.7) 8.5 (6.3–11)
Leptin (ng/mL) 0.4 9.81 0.38 (< 0.1–0.85) 1.53 (0.94–7.42)
HOMA-IR 14.1 7.66 9.06 (3.98–78.57) 8.12 (5.63–14.43)
AST (IU/L) 27 23 23 (11–145) 17 (11–32)
ALT (IU/L) 30 32 24 (15–114) 19 (9–43)
HDL Cholesterol (mg/dL) 22 38 28 (15–36) 33 (21–46)
Triglyceride (mg/dL) 1600 169 597 (72–2083) 443 (196–1358)
Creatinine (mg/dL) 0.69 0.71 1.21 (0.37–2.29) 0.75 (0.50–1.50)
Urinary protein excretion (mg/day) 41.8 11 245 (< 5–15,200) 173 (< 5–3210)
  1. HOMA-IR was calculated as fasting insulin (microU/L) x fasting glucose (nmol/L)/22.5. Leptin normal range for adult females (BMI: 22): 3.3–18.3 ng/mL. ALT: alanine aminotransferase AST: aspartate aminotransferase. AGPAT2 pathogenic variants in CGL1 patients are IVS5–2 A > C (c.662-2A > C), n = 1; p.C48X (c.144C > A), n = 3; p.E229X (c.685G > T), n = 2; p.E172K (c.514G > A), n = 2; p.R68X (c.202C > T), n = 1; and p.D180PfsX5 (c.538_539delGA), n = 1. LMNA pathogenic variants in typical FPLD2 patients are p.R482Q (c.1445G > A), n = 4; and p.R482W (c.1444C > T), n = 4. Lipid medications include fenofibrate 250–267 mg/day. Oral antidiabetic use includes metformin (1–2 g/day), DDP4 inhibitors (sitagliptin 100 mg/day, vildagliptin 100 mg/day), and pioglitazone (15–30 mg/day). Values were reported as median (range) in the CGL1 and FLPD2 groups