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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