Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects

Abstract

BackgroundBerardinelli-Seip Congenital Generalized Lipodystrophy (BSCL) is an ultra-rare metabolic disease characterized by hypertriglyceridemia, hyperinsulinemia, hyperglycemia, hypoleptinemia, and diabetes mellitus. Although cardiovascular disturbances have been observed in BSCL patients, there are no studies regarding the Respiratory Muscle Strength (RMS) in this type of lipodystrophy. This study aimed to evaluate RMS in BSCL subjects compared with healthy subjects.MethodsEleven individuals with BSCL and 11 healthy subjects matched for age and gender were included in this study. The Maximum Inspiratory Pressure (MIP), Maximum Expiratory Pressure (MEP), and Peripheral Muscle Strength (PMS) were measured for three consecutive years. BSCL subjects were compared to healthy individuals for MIP, MEP, and PMS. Correlations between PMS and MIP were also analyzed. The genetic diagnosis was performed, and sociodemographic and anthropometric data were also collected.ResultsBSCL subjects showed significantly lower values for MIP and MEP (p < 0.0001 and p = 0.0002, respectively) in comparison to healthy subjects, but no changes in handgrip strength (p = 0.15). Additionally, we did not observe changes in MIP, MEP, and PMS two years after the first analysis, showing maintenance of respiratory dysfunction in BSCL subjects (p = 0.05; p = 0.45; p = 0.99). PMS and MIP were not correlated in these subjects (r = 0.56; p = 0.18).ConclusionBSCL subjects showed lower respiratory muscle strength when compared with healthy subjects; however, PMS was not altered. These findings were maintained at similar levels during the two years of evaluation. Our data reveal the first association of BSCL with the development of respiratory muscle weakness.Electronic supplementary materialThe online version of this article (10.1186/s12931-018-0879-8) contains supplementary material, which is available to authorized users.

DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies

“…The lack of sWAT in CGL causes a decrease in leptin levels and alters food intake, intensifying the appetite ( Badman & Flier, 2007 ; Rodríguez et al , 2016 ). The blood circulating lipids result in hypertriglyceridemia (HTG), and their accumulation in ectopic sites, such as in the liver and skeletal muscle, can result in hepatic steatosis and weakness of respiratory muscle strength, respectively ( Debray et al , 2013 ; Dantas De Medeiros et al , 2018 ; Araújo de Melo Campos et al , 2021 ). Severe IR causes hypertension, HTG, and difficulty in controlling diabetes.…”

“…At the morphological level, CGL subjects present a typical phenotype, revealing acromegalic facies, prominent musculature, prognathism, phlebomegaly (prominent veins), umbilical protrusion, acanthosis nigricans , acrochordons, hirsutism, bone cysts, and others ( Garg, 2000 ; Maldergem et al , 2002 ; Agarwal et al , 2003b ; Garg and Agarwal, 2009 ; Vigouroux et al , 2011 ; Lima et al , 2016 ; Lima et al , 2017 ; Lima et al , 2018a ). At metabolic and physiological levels, CGL subjects present dyslipidemia, hyperinsulinemia, IR, DM, low levels of leptin and adiponectin, decreased levels of high-density lipoprotein cholesterol (HDL-c), hepatosplenomegaly, and hypertrophic cardiomyopathy ( Faria et al , 2009 ; Lima et al , 2016 ; de Azevedo Medeiros et al , 2017 ; Ponte et al , 2018 ; Dantas De Medeiros et al , 2018 ).…”

Impaired functional exercise capacity and greater cardiovascular response to the 6-min walk test in congenital generalized lipodystrophy

“…At the morphological level, they present prominent musculature, prognathism, umbilical protrusion, acanthosis nigricans, and phlebomegaly [4][5][6][7][8]. Cardiovascular (hypertrophic cardiomyopathy, arterial hypertension, cardiovascular autonomic neuropathy, and atherosclerosis) and respiratory disturbances (respiratory muscle weakness) have been currently described in patients with CGL [4,[9][10][11][12][13]. Lipodystrophic subjects may have muscle dysfunction and several pathophysiological mechanisms may be related, including increased endoplasmic reticulum stress [14].…”

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy

“…Congenital generalized lipodystrophy (CGL) is a group of rare inherited lipodystrophies characterized by lipoatrophy at birth or in early life (1,2). The clinical presentation of CGL includes acromegaloid features, hypertriglyceridemia and complications related to insulin resistance (1). Four subtypes of CGL have been reported, all of which are autosomal recessive disorders (3).…”