Estudo da composição corporal por absorciometria de dupla emissão de raios X (DEXA) em pacientes com Lipodistrofia Generalizada Congênita

Abstract

Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disorder, characterized by the almost total absence of adipose tissue since birth or childhood, resulting in the accumulation of ectopic fat and the development of metabolic complications. This is a cross- sectional study that analyzed 23 patients with LGC at the Walter Cantídio University Hospital in the city of Fortaleza, Ceará, which aimed to describe the body composition of these individuals by dual-emission X-ray absorptiometry and compare with a healthy control group. matched by sex, age, and body mass index (BMI). Socioeconomic data, measurements of circumference and skinfold thickness, body composition data by dual emission X-ray absorptiometry (DEXA), clinical parameters, and laboratory tests were collected. Continuous variables were described using mean, standard deviation, and median (minimum-maximum), and categorical variables were described using relative and absolute frequencies. To compare variables between groups, the Mann-Whitney test was used. A significance level of 5% was adopted. Among anthropometric parameters, the majority of patients with LGC had a normal BMI, while neck circumference was significantly greater compared to the control group. When analyzing body composition in adults and the pediatric population with LGC, it was observed that adults had a higher muscle mass index. This finding suggests a possible association with the progression of muscular steatosis or hypertrophy secondary to hyperinsulinemia. A higher relative skeletal muscle mass index was also observed in patients with LGC, compared to healthy individuals. From the fat shadow images, residual pubic fat was evident in all women with lipodystrophy. LGC is an important biological model for studying the relationship between adipose tissue distribution and susceptibility to metabolic diseases. Although this study addresses a significant case series from Brazil, the need for additional studies is highlighted to deepen the understanding of the findings of this research and the mechanisms involved.