Avaliação antropométrica em pacientes com síndrome da quilomicronemia familiar: um estudo caso-controle

Abstract

Familial Chylomicronemia Syndrome (FCS) is a rare genetic dyslipidemia characterized by a deficiency of lipoprotein lipase (LPL), resulting in severe (>1000 mg/dL) and chronic hypertriglyceridemia, even in the fasting state, and leading to episodes of acute pancreatitis. With increased prevalence in the Northeast region of Brazil due to a founder effect, FCS affects lipid metabolism and imposes severe dietary restrictions, compromising the quality of life of affected individuals. Given the clinical and metabolic impact of FCS, anthropometric assessment proves to be an essential tool in the nutritional monitoring of these individuals, serving both as a monitoring instrument and a predictor of cardiometabolic risk. Therefore, the present study aimed to assess the body composition of patients with FCS followed at the Lipid Disorders Outpatient Clinic of the Onofre Lopes University Hospital (HUOL), using a case-control design. The study included 11 patients with a confirmed diagnosis of FCS and 11 controls matched by age, sex, and body mass index (BMI). The anthropometric assessment involved measurements of weight, height, circumferences, skinfolds, bioelectrical impedance analysis, and calculation of arm muscle area. The results indicated that patients with FCS presented mean BMI and body fat percentage values compatible with overweight, along with greater central adiposity, evidenced by waist circumference and waist-to-hip ratio above the cutoff points. Bioelectrical impedance analysis revealed higher levels of body fat compared to skinfold measurements. Although no significant differences were found between groups due to BMI matching, the findings demonstrate clinical relevance, suggesting a high risk of non-communicable chronic diseases in individuals with FCS. Therefore, detailed anthropometric assessment is essential in the follow-up of these patients, offering information for individualized nutritional interventions and contributing to the prevention of complications such as pancreatitis and cardiovascular events.