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

• Published in: Respiratory research Vol. 19; no. 1; pp. 173 - 11
• Main Authors: Dantas de Medeiros, Jorge Luiz, Carneiro Bezerra, Bruno, Brito de Araújo, Thiago Anderson, Craveiro Sarmento, Aquiles Sales, de Azevedo Medeiros, Lázaro Batista, Peroni Gualdi, Lucien, Luna Cruz, Maria do Socorro, Xavier Nobre, Thaiza Teixeira, Gomes Lima, Josivan, Araújo de Melo Campos, Julliane Tamara
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 12.09.2018; BioMed Central; BMC
• Subjects: Adult; Anthropometry; Berardinelli-Seip congenital lipodystrophy; Chronic illnesses; Congenital diseases; Cross-Sectional Studies; Data collection; Diabetes; Diabetes mellitus; Diagnosis; Female; Genetic aspects; Genetic screening; Health aspects; Heart failure; Humans; Hyperglycemia; Hyperinsulinemia; Hypertriglyceridemia; Internet; Leptin - analogs & derivatives; Leptin - pharmacology; Leptin - therapeutic use; Lipodystrophy; Lipodystrophy, Congenital Generalized - diagnosis; Lipodystrophy, Congenital Generalized - drug therapy; Lipodystrophy, Congenital Generalized - physiopathology; Longitudinal Studies; Male; Maximal Respiratory Pressures - methods; MEP; Metabolic disorders; Metabolism; Metreleptin; MIP; Muscle function; Muscle strength; Muscle Strength - drug effects; Muscle Strength - physiology; Musculoskeletal system; Physiological aspects; PMS; Pressure; Respiration; Respiratory muscles; Respiratory Muscles - drug effects; Respiratory Muscles - physiopathology; Studies; Systematic review; Young Adult; Rio Grande do Norte Brazil; Brazil; Metreleptin; Lipodystrophy; MEP; MIP; PMS
• ISSN: 1465-993X; 1465-9921; 1465-993X
• DOI: 10.1186/s12931-018-0879-8

Berardinelli-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. Eleven 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. BSCL 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). BSCL 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.