Banca de QUALIFICAÇÃO: LEONAM DA SILVA PEREIRA BATISTA

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : LEONAM DA SILVA PEREIRA BATISTA
DATE: 27/03/2025
TIME: 14:00
LOCAL: Sessão pública realizada por videoconferência: https://meet.google.com/ypq-pnyg-wyx
TITLE:

Blood Concentration of Vitamins in Patients with Familial Chylomicronemia Syndrome (FCS)

KEY WORDS:

Rare Diseases, Type I Hyperlipoproteinemia, Lipids, Vitamins

PAGES: 66
BIG AREA: Ciências da Saúde
AREA: Nutrição
SUMMARY:

Familial Chylomicronemia Syndrome is a rare autosomal recessive disorder with a founder effect in the Northeast region of Brazil. Mutations in the lipoprotein lipase (LPL) gene or other genes related to its function cause the accumulation of chylomicrons in the bloodstream, resulting in severe hypertriglyceridemia (>1000 mg/dL), which compromises physical, psychological, and social aspects. The primary treatment consists of nutritional therapy, which imposes a strict lipid restriction (<20g/day). This study aimed to evaluate the concentration of fat-soluble vitamins (E, K, A, and D) and vitamin B12 in patients with FCS, as these nutrients rely on fatty acids for their metabolism. A case-control study was conducted, matched by sex, age, and body mass index (1 case: 1 control), with individuals recruited from the Onofre Lopes University Hospital (HUOL) and the University of São Paulo at Ribeirão Preto (USP). Information on lifestyle, health, physical examination, gastrointestinal symptoms, and anthropometric assessment was collected using the KoboToolbox platform. Blood samples were collected for biochemical analysis of fat-soluble vitamins and vitamin B12. Data were analyzed using SPSS Statistics v.26.0, with a significance level of 95% (p-value < 0.05). Effect size was calculated using Cohen's d and the r statistic, with the following criteria: Small: d = 0.2; Medium: d = 0.5; Large: d = 0.8 and Small: r = 0.1; Medium: r = 0.3; Large: r = 0.5. Of a total of 16 FCS patients monitored in the outpatient clinic, 11 were included in the study and matched with their respective controls. Significant differences were observed in vitamin E values (Case = 15.35 mg/L vs. Control = 11.55 mg/L, p = 0.035), and a large effect size was observed for vitamin B12 (Case = 276.82 vs. Control = 242.46, Cohen’s d = 0.85). Additionally, a medium effect size was observed in the concentrations of vitamins K and A (Case = 1.58 vs. Control = 1.49, Cohen’s d = 0.66; Case = 2.27 vs. Control = 1.92, Cohen’s d = 0.77, respectively). When individuals with FCS were subdivided by genotype, a large effect size for vitamin A was observed (Homozygote = 1.33 vs. Heterozygote = 3.22, Cohen’s d = 2.61). Thus, individuals with FCS showed higher concentrations of vitamins E, K, and A, as well as vitamin B12, compared to individuals without the syndrome. Furthermore, a difference in vitamin A concentrations was observed between the genotypes of FCS.

COMMITTEE MEMBERS:
Presidente - 3218336 - BRUNA ZAVARIZE REIS
Externo à Instituição - DENNYS ESPER CORRÊA CINTRA - UNICAMP
Interna - 2578592 - KARLA DANIELLY DA SILVA RIBEIRO RODRIGUES