Congenital generalized lipodystrophy (CGL) produces clinical features with severe metabolic consequences. Research has focused on measuring the response to the drugs. Nevertheless, there are no studies on the response to dietary therapy. The aim of this study was to show the clinical response to early nutritional intervention to modify or reverse metabolic effects in pediatric patients with CGL.

A retrospective study was conducted on patients with CGL followed up between January 2003 and June 2017. After diagnosis, patients were indicated a diet with a total calorie intake according to the reference daily intake (RDI), without fast sugars. Clinical feature and laboratory tests (insulin, glucose, A_1C, lipid panel, liver and kidney function tests), and complementary studies (abdominal ultrasonography, echocardiogram), at the first visit and during follow-up were recorded. Statistics, version 10, was used for analysis.

Eight patients were included. The median age at the first visit was 1.1 years (range, 0.28–9.9 years) and the median time of follow-up was 3.9 years (range, 0.4–9.47 years). The median initial triglyceride level was 516 mg/dL (range, 327–3590 mg/dL) p=0.014; median low-density lipoprotein (LDL) was 157 mg/dL (range, 94–370 mg/dL) p=0.03; median glycemia was 84 mg/dL (range, 63–126 mg/dL) p=0.02; median insulin was 28.84 µUI/mL (range, 3.9–116); median homeostatic model assessment-insulin resistance (HOMA-IR) was 5.3 (range, 1.21–23.2). After 3–6 months of diet, the median percentage of triglyceride decrease was 79.5% (range, 47–97%), LDL 44% (range, 20.5–59%), glycemia 8.8% (range, 0–53.1%), insulin 67.8% (range, 0–92.8%) p=0.02 and HOMA-IR was 81.5% (range, 50–98%) p=0.05. As of the last follow-up visit, in none of the patients, liver ultrasonography or echocardiogram had deteriorated.

In these pediatric patients with CGL, a diet adjusted to RDI with restriction of fast sugars led to a marked improvement in metabolic parameters.