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Lima JG, Nobrega LH, de Lima NN, et al. Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetol Metab Syndr. 2016;8:23doi: 10.1186/s13098-016-0140-x.
Lima, J. G., Nobrega, L. H., de Lima, N. N., do Nascimento Santos, M. G., Baracho, M. F., & Jeronimo, S. M. (2016). Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetology & metabolic syndrome, 823. https://doi.org/10.1186/s13098-016-0140-x
Lima, Josivan G, et al. "Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy." Diabetology & metabolic syndrome vol. 8 (2016): 23. doi: https://doi.org/10.1186/s13098-016-0140-x
Lima JG, Nobrega LH, de Lima NN, do Nascimento Santos MG, Baracho MF, Jeronimo SM. Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetol Metab Syndr. 2016 Mar 15;8:23. doi: 10.1186/s13098-016-0140-x. eCollection 2016. PMID: 26985241; PMCID: PMC4793761.
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Diabetol Metab Syndr. 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.

Diabetology & metabolic syndrome

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

Affiliations

  1. Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL)/UFRN, Av. Nilo Peçanha, 620 - Petrópolis, Natal, RN 59012-300 Brazil ; Health Graduate Program, Natal, Brazil.
  2. Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL)/UFRN, Av. Nilo Peçanha, 620 - Petrópolis, Natal, RN 59012-300 Brazil.
  3. Departamento de Análises Clínicas e Toxicológicas, UFRN, Natal, Brazil.
  4. Instituto de Medicina Tropical do Rio Grande do Norte, Natal, Brazil ; Departamento de Bioquímica, Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, RN Brazil ; Institute of Science and Technology of Tropical Diseases, INCT-DT, Salvador, Brazil.

PMID: 26985241 PMCID: PMC4793761 DOI: 10.1186/s13098-016-0140-x

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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