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. 2016 Mar 15:8:23.
doi: 10.1186/s13098-016-0140-x. eCollection 2016.

Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy

Josivan G Lima  1 , Lucia Helena C Nobrega  2 , Natalia Nobrega de Lima  2 , Maria Goretti do Nascimento Santos  3 , Maria F P Baracho  2 , Selma Maria Bezerra Jeronimo  4
Affiliations

Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy

Josivan G Lima et al. Diabetol Metab Syndr. .

Abstract

Background: Berardinelli-Seip congenital lipodystrophy (BSCL) was initially described by Berardinelli in Brazil in 1954 and 5 years later by Seip in Norway. It is an autosomal recessive disease that leads to a generalized deficit of body fat, evolving with diabetes and hypertriglyceridemia. The aim of this study was to describe the clinical and laboratory characteristics of a large series of patients with BSCL.

Methods: This is a cross-sectional study of patients with BSCL. A total of 54 cases of BSCL were diagnosed, treated and followed for the past 17 years. We report clinical and laboratorial data of 44 of those patients.

Results: There was a predominance of female patients (27 patients), and the mean age was 21.3 ± 13.7 years old. The majority of patients (30/44; 68.2 %) were diabetic, and almost half of them (14/30 patients, 46.7 %) were on insulin. The mean body mass index was 19.6 ± 3.3 and the mean body fat measured by dual-energy X-ray absorptiometry (DEXA) was 5.4 ± 0.8 %. Acanthosis nigricans, acromegaloid facies, atrophic cheeks, prognathism, phlebomegaly, and muscle hypertrophy were the most common clinical features. Only two patients had triglyceridemia lower than 150 mg/dl without the use of lipid-lowering drugs. Hyperinsulinemia was present in the majority of patients, and leptin values were very low in all patients.

Conclusions: We report one of the largest series of patients with BSCL treated at a single medical center. Earlier identification of the mutations and a better understanding of the pathophysiology can aid to better treatment and decrease complications, potentially improving life quality and expectancy.

Keywords: Berardinelli-Seip; Diabetes; Insulin resistance; Lipodystrophy.

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Figures

Fig. 1
Fig. 1
Clinical features of BSCL—Two patients with BSCL type 2. Acromegaloid facies, prognathism, atrophic cheeks, abdominal distension (female)
Fig. 2
Fig. 2
a Abdominal distension (hepatomegaly), umbilical protrusion, and phlebomegaly b in two patients with Berardinelli-Seip syndrome
See this image and copyright information in PMC

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