Skip to main content
Top
Published in: Diabetology & Metabolic Syndrome 1/2017

Open Access 01-12-2017 | Research

High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil

Authors: Lázaro Batista de Azevedo Medeiros, Verônica Kristina Cândido Dantas, Aquiles Sales Craveiro Sarmento, Lucymara Fassarella Agnez-Lima, Adriana Lúcia Meireles, Thaiza Teixeira Xavier Nobre, Josivan Gomes de Lima, Julliane Tamara Araújo de Melo Campos

Published in: Diabetology & Metabolic Syndrome | Issue 1/2017

Login to get access

Abstract

Background

Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare disease characterized by the almost complete absence of adipose tissue. Although a large number of BSCL cases was previously identified in Rio Grande do Norte (RN), a state in Northeast Brazil, its prevalence in RN regions and municipalities remains unknown. The purpose of this study was to better characterize the prevalence of BSCL in RN.

Methods

A descriptive study was conducted using secondary data obtained from the Association of Parents and People with BSCL of RN to determine its prevalence. The patients’ socio-demographic characteristics and geolocalization were analyzed.

Results

We estimated a total of 103 BSCL cases in RN, resulting in a prevalence of 3.23 per 100,000 people. The Central Potiguar mesoregion, Seridó territory, Carnaúba dos Dantas and Timbaúba dos Batistas municipalities had a much higher prevalence of BSCL, with 20.56, 20.66, 498.05 and 217.85 per 100,000 people, respectively.

Conclusions

Together, our results showed that BSCL is highly prevalent in RN and confirmed that our state has one of the highest prevalences of this lipodystrophy worldwide. More studies are still needed to better estimate the prevalence and incidence of BSCL in RN as well as in other states in Brazil.
Trial registration Study Number 31809314.0.0000.5568
Literature
1.
go back to reference Berardinelli W. An undiagnosed endocrinometabolic syndrome: report of 2 cases. J Clin Endocrinol Metab. 1954;14(2):193–204.CrossRefPubMed Berardinelli W. An undiagnosed endocrinometabolic syndrome: report of 2 cases. J Clin Endocrinol Metab. 1954;14(2):193–204.CrossRefPubMed
2.
go back to reference Seip M, Trygstad O. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr Suppl. 1996;413:2–28.CrossRefPubMed Seip M, Trygstad O. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr Suppl. 1996;413:2–28.CrossRefPubMed
5.
go back to reference Haghighi A, Kavehmanesh Z, Haghighi A, Salehzadeh F, Santos-Simarro F, Van Maldergem L, et al. Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. Clin Genet. 2015;89:434–41.CrossRef Haghighi A, Kavehmanesh Z, Haghighi A, Salehzadeh F, Santos-Simarro F, Van Maldergem L, et al. Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. Clin Genet. 2015;89:434–41.CrossRef
6.
go back to reference Seip M. Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? Acta Paediatr. 1959;48:555–74.PubMed Seip M. Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? Acta Paediatr. 1959;48:555–74.PubMed
7.
go back to reference Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, et al. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J Clin Endocrinol Metab. 1999;84(9):3390–4.CrossRefPubMed Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, et al. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J Clin Endocrinol Metab. 1999;84(9):3390–4.CrossRefPubMed
8.
go back to reference Gale SE, Frolov A, Han X, Bickel PE, Cao L, Bowcock A, et al. A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation. J Biol Chem. 2006;281(16):11082–9.CrossRefPubMed Gale SE, Frolov A, Han X, Bickel PE, Cao L, Bowcock A, et al. A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation. J Biol Chem. 2006;281(16):11082–9.CrossRefPubMed
9.
go back to reference Magré J, Delépine M, Khallouf E, Gedde-Dahl T, Van Maldergem L, Sobel E, et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001;28(4):365–70.CrossRefPubMed Magré J, Delépine M, Khallouf E, Gedde-Dahl T, Van Maldergem L, Sobel E, et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001;28(4):365–70.CrossRefPubMed
10.
go back to reference Dollet L, Magré J, Cariou B, Prieur X. Function of seipin: new insights from Bscl2/seipin knockout mouse models. Biochimie. 2014;96:166–72.CrossRefPubMed Dollet L, Magré J, Cariou B, Prieur X. Function of seipin: new insights from Bscl2/seipin knockout mouse models. Biochimie. 2014;96:166–72.CrossRefPubMed
11.
go back to reference Ebihara C, Ebihara K, Aizawa-Abe M, Mashimo T, Tomita T, Zhao M, et al. Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis. Hum Mol Genet. 2015;24(15):4238–49.CrossRefPubMed Ebihara C, Ebihara K, Aizawa-Abe M, Mashimo T, Tomita T, Zhao M, et al. Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis. Hum Mol Genet. 2015;24(15):4238–49.CrossRefPubMed
14.
go back to reference Fu M, Kazlauskaite R, de Paiva Baracho MD, Nascimento Santos MG, Brandão-Neto J, Villares S, Celi FS, et al. Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. J Clin Endocrinol Metab. 2004;89(6):2916–22.CrossRefPubMedPubMedCentral Fu M, Kazlauskaite R, de Paiva Baracho MD, Nascimento Santos MG, Brandão-Neto J, Villares S, Celi FS, et al. Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. J Clin Endocrinol Metab. 2004;89(6):2916–22.CrossRefPubMedPubMedCentral
15.
go back to reference Gomes KB, Fernandes AP, Ferreira ACS, Pardini H, Garg A, Magré J, et al. Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. J Clin Endocrinol Metab. 2004;89(1):357–61.CrossRefPubMed Gomes KB, Fernandes AP, Ferreira ACS, Pardini H, Garg A, Magré J, et al. Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. J Clin Endocrinol Metab. 2004;89(1):357–61.CrossRefPubMed
16.
go back to reference Lima JG, Nobrega LH, Lima NN, Santos MG, Baracho MF, Jeronimo SM. Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetol Metab Syndr. 2016;8:23.CrossRefPubMedPubMedCentral Lima JG, Nobrega LH, Lima NN, Santos MG, Baracho MF, Jeronimo SM. Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetol Metab Syndr. 2016;8:23.CrossRefPubMedPubMedCentral
19.
go back to reference Ebihara K, Kusakabe T, Masuzaki H, Kobayashi N, Tanaka T, Chusho H, et al. Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. J Clin Endocrinol Metab. 2004;89(5):2360–4.CrossRefPubMed Ebihara K, Kusakabe T, Masuzaki H, Kobayashi N, Tanaka T, Chusho H, et al. Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. J Clin Endocrinol Metab. 2004;89(5):2360–4.CrossRefPubMed
20.
go back to reference Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. Eur J Med Genet. 2009;52(1):14–6.CrossRefPubMed Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. Eur J Med Genet. 2009;52(1):14–6.CrossRefPubMed
22.
go back to reference Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T, Delépine M, Trygstad O, et al. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet. 2002;39(10):722–33.CrossRefPubMedPubMedCentral Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T, Delépine M, Trygstad O, et al. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet. 2002;39(10):722–33.CrossRefPubMedPubMedCentral
23.
go back to reference Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P, O’Rahilly S, et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab. 2003;88(10):4840–7.CrossRefPubMed Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P, O’Rahilly S, et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab. 2003;88(10):4840–7.CrossRefPubMed
Metadata
Title
High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil
Authors
Lázaro Batista de Azevedo Medeiros
Verônica Kristina Cândido Dantas
Aquiles Sales Craveiro Sarmento
Lucymara Fassarella Agnez-Lima
Adriana Lúcia Meireles
Thaiza Teixeira Xavier Nobre
Josivan Gomes de Lima
Julliane Tamara Araújo de Melo Campos
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Diabetology & Metabolic Syndrome / Issue 1/2017
Electronic ISSN: 1758-5996
DOI
https://doi.org/10.1186/s13098-017-0280-7

Other articles of this Issue 1/2017

Diabetology & Metabolic Syndrome 1/2017 Go to the issue
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.