- Meeting abstract
- Open Access
Evaluation of steatohepatitis, body composition and metabolic profile of three patients with Berardinelli-Seip syndrome
© Schnoll et al. 2015
- Published: 11 November 2015
- Body Composition
- Liver Fibrosis
- Metabolic Profile
Berardinelli-Seip congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease characterized by almost complete absence of adipose tissue. Because of it, they have hypertriglyceridemia with fat ectopic deposits and regularly develop diabetes mellitus and steatohepatitis.
Primary objective: Evaluate the grade of steatosis and liver fibrosis, the body composition and metabolic profile of three patients with BSCL. Second: evaluate the body composition in this syndrome with Dual energy X-ray absortiometry (DEXA).
Hepatic impairment was evaluated by liver elastography ultrasound through wave M and X using FibroScan 502. DEXA (Lunar Prodigy Advance) and also Bioimpedance analysis (InBody 270) were used to assess body composition. Blood samples were collected after 12 hour fasting state to measure lipids and glycemia. There retina were also by indirect ophthalmoscopy method.
The patients' metabolic profile after the treatment
Fasting plasma glucose (mg/dL)
Steatosis duration seems to be an important factor for liver fibrosis, since the two oldest patients had fibrosis and the youngest did not. These patients have very low percentage of fat tissue by DEXA. Hyperglycemia and hypertriglyceridemia in BSCL patients is very common, despite the use of insulin sensitizers, high doses of insulin and lipid-lowering agents.
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