Banca de DEFESA: BARTIRA MIRIDAN XAVIER CORTEZ RODRIGUES REBOUCAS

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : BARTIRA MIRIDAN XAVIER CORTEZ RODRIGUES REBOUCAS
DATE: 22/09/2025
TIME: 09:00
LOCAL: REMOTA - https://meet.google.com/zux-pkfq-sby
TITLE:

CORONARY CALCIFICATION IN PATIENTS WITH GENERALIZED CONGENITAL LIPODYSTROPHY: A CASE SERIES

KEY WORDS:

Berardinelli-Seip lipodystrophy, insulin resistance, leptin, adipocyte tissue calcium score, cardiovascular risk, coronary arteriosclerosis

PAGES: 57
BIG AREA: Ciências da Saúde
AREA: Medicina
SUMMARY:

Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is a rare genetic disorder characterized by near-total absence of subcutaneous adipose tissue and severe metabolic disturbances, including marked insulin resistance, early-onset diabetes mellitus, dyslipidemia, and hepatic steatosis. Given the growing concern over cardiovascular mortality among young patients with CGL and the scarcity of studies on this topic, this work aimed to assess cardiovascular risk in this population by quantifying coronary artery calcification (CAC) using computed tomography to determine the coronary calcium score (CCS). In a crosssectional descriptive study, 19 patients with CGL followed at a university hospital in Northeastern Brazil were analyzed. The mean age was 21.1 years, with 42.1% being children. A positive CCS (greater than zero) was observed in 26.3% of the patients, all under 50 years of age, with 60% of them showing values above 100 HU. Statistical analysis revealed a significant association between altered CCS and factors such as older age, diabetes, arterial hypertension, and lower ALT levels. The use of metreleptin, although associated with improvement in several metabolic comorbidities, was not correlated with the presence or absence of coronary calcification. Age and the FIB-4 score were the strongest predictors of altered CCS, suggesting a possible link between advanced liver disease and cardiovascular risk in patients with CGL. This study is the first to evaluate CCS in this population and highlights the importance of early screening for subclinical atherosclerosis in young and asymptomatic individuals with CGL, reinforcing the need for therapeutic strategies aimed at preventing cardiovascular outcomes. The multidisciplinary interface between endocrinology, cardiology, hepatology, genetics, and radiology proved essential for conducting and interpreting the findings.

COMMITTEE MEMBERS:
Externa à Instituição - ALINE MARIA CAVALCANTE GURGEL - UFERSA
Presidente - 1451614 - JOSIVAN GOMES DE LIMA
Externa ao Programa - 1837354 - JULLIANE TAMARA ARAUJO DE MELO CAMPOS - null