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Table 2 Laboratory tests, abdominal ultrasound, and echocardiography of congenital generalized lipodystrophy Patients 1 and 2

From: Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications

Patient

1

2

Age (years old)

15*

30**

1*

12.2**

Leptin (ng/mL)*

1.0

1.0

Total cholesterol (mg/dL)

292

175

131

145

HDL (mg/dL)

25

26

18

HOMA-IR

NA

NA

1.8

9.9

Glucose (fasting) (mg/dL)

259

291

82

75

GlycohemoglobinA1c (%)

6.4

5.1

5.7

Triglycerides (mg/dL)

816

306

519

397

Abdominal ultrasound

Renal microlithiasis, hepatomegaly, hepatic steatosis, and nephromegaly

Hepatomegaly, hepatic steatosis, and nephromegaly

Cardiovascular autonomic neuropathy testsa

Clinical/

Advanced

Absent

Conventional echocardiography

increased left atrium, apical hypokinesia, preserved systolic function

Normal

GLS by speckle-tracking echocardiography

− 17.9%b

− 19.3%b

  1. At the first * and the last ** clinical evaluation
  2. aCardiovascular autonomic neuropathy tests: deep breathing test (E/I coefficient), valsalva maneuver, orthostatic test (30/15 coefficient) and orthostatic or postural hypotension test
  3. bGLS: Global longitudinal strain, reference value (adults): − 21.1 to − 19.4; (2–9 years old): − 23.9 to − 22