Banca de DEFESA: LEONAM DA SILVA PEREIRA BATISTA

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : LEONAM DA SILVA PEREIRA BATISTA
DATE: 23/06/2025
TIME: 08:00
LOCAL: Sessão pública realizada por meio de videoconferência via link: https://meet.google.com/yfj-wrnx-oby
TITLE:

Nutritional status of fat-soluble vitamins and cobalamin in Familial Chylomicronemia Syndrome (FCS): a case-control study

KEY WORDS:

Rare Diseases, Type I Hyperlipoproteinemia, Lipids, Vitamins.

PAGES: 73
BIG AREA: Ciências da Saúde
AREA: Nutrição
SUMMARY:

Familial Chylomicronemia Syndrome (FCS) is a rare autosomal recessive genetic disorder that may exhibit a founder effect in certain regions, such as in Northeast Brazil. This condition is primarily caused by mutations in the lipoprotein lipase (LPL) gene or in genes related to its function, resulting in the accumulation of chylomicrons in the blood and leading to severe hypertriglyceridemia (levels above 1000 mg/dL). Management of FCS requires strict nutritional therapy, with severe lipid restriction (less than 20 g per day), and patients often face physical, psychological, and social challenges. This study aimed to evaluate the clinical, socioeconomic, anthropometric, and laboratory characteristics of patients with FCS, comparing them to control individuals and investigating differences between disease genotypes. For this purpose, a case-control study matched by sex, age, and BMI category (1 case:1 control) was conducted, with participants recruited from the Onofre Lopes University Hospital (HUOL) and the Federal University of Rio Grande do Norte (UFRN). Individuals were grouped according to their genotypic variation, classified as heterozygous or homozygous. Information regarding lifestyle, health, physical examination, gastrointestinal symptoms, and anthropometric assessment was collected using the KoboToolbox platform. Blood samples were obtained for biochemical analysis of serum retinol, serum phylloquinone, serum alpha-tocopherol, 25-hydroxyvitamin D, and serum cobalamin. Data were analyzed using SPSS Statistics version 26.0, adopting a significance level of 95% (p < 0.05). Effect size was calculated using Cohen’s d, Cliff’s Delta, Eta squared, and Epsilon squared. Out of 16 FCS patients followed at the outpatient clinic, 11 were included in the study and matched with their respective controls. A large effect size was observed for retinol, with the heterozygous group showing higher levels compared to the homozygous and control groups (Homozygous = 1.33 µmol/L ± 0.41; Heterozygous = 3.22 µmol/L ± 0.94; Control = 1.92 µmol/L ± 0.24; η² = 0.253). A large effect size was also found for alpha-tocopherol, where both heterozygous and homozygous groups exhibited higher levels than the control group, the latter showing possible vitamin insufficiency according to adopted cutoff points (Homozygous = 35.87 µmol/L [25.53 – 63.41]; Heterozygous = 35.38 µmol/L [23.29 – 64.72]; Control = 26.82 µmol/L [20.55 – 30.21]; η² = 0.234). Additionally, a significant negative correlation was identified between vitamin D and levels of triglycerides, total cholesterol, and VLDL (rho = -0.738, p = 0.01; rho = -0.767, p = 0.006; rho = -0.702, p = 0.016, respectively). Regarding dietary intake, individuals with FCS showed lipid consumption above the recommended nutritional guidelines. Consequently, patients with FCS exhibited higher concentrations of vitamins E and A, as well as lipid intake above recommended levels.

COMMITTEE MEMBERS:
Presidente - 3218336 - BRUNA ZAVARIZE REIS
Externa à Instituição - Graziela Biude Silva Duarte - USP
Interna - 2578592 - KARLA DANIELLY DA SILVA RIBEIRO RODRIGUES