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.

Highlights

  • Berardinelli-Seip Congenital Generalized Lipodystrophy (BSCL) is an ultra-rare metabolic disease characterized by hypertriglyceridemia, hyperinsulinemia, hyperglycemia, hypoleptinemia, and diabetes mellitus

  • Considering the metabolic, cardiovascular, and cognitive complications related to BSCL subjects worldwide [5, 14,15,16], the abnormal cardiovascular autonomic modulation shown by BSCL subjects from Rio Grande do Norte (RN) [4, 5], as well as the lack of studies investigating respiratory maximal pressures in these subjects, the aim of this research was to evaluate the respiratory and peripheric muscle strength in BSCL subjects compared to healthy subjects

  • We found that the majority of BSCL subjects were Type 2, presenting a specific mutation in the BSCL2 gene (325dupA)

Read more

Summary

Introduction

Berardinelli-Seip Congenital Generalized Lipodystrophy (BSCL) is an ultra-rare metabolic disease characterized by hypertriglyceridemia, hyperinsulinemia, hyperglycemia, hypoleptinemia, and diabetes mellitus. Cardiovascular disturbances have been observed in BSCL patients, there are no studies regarding the Respiratory Muscle Strength (RMS) in this type of lipodystrophy. Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare genetic disease characterized by the absence of adipose tissue that contributes to the impairment of glucose and lipid metabolism [1, 2]. Laboratory and genetic data for BSCL patients from RN were reported by Lima et al [3]. Our research group analyzed the leading causes of death in BSCL patients from RN. We found that many of our patients died due to infections, mainly pulmonary [8]

Objectives
Methods
Results
Discussion
Conclusion
Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call