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Endocrinology

Session: Endocrinology Works in Progress

WIP 14 - Study of Endothelial Dysfunction in Children with Obesity and Rare Genetic Variants

Friday, May 3, 2024
5:15 PM – 7:15 PM ET
Poster Number: WIP 14
Publication Number: WIP 14.701


Background: Endothelial dysfunction (ED) is an early feature atherosclerosis and is a well-established predictor of cardiovascular disease, particularly in obese individuals. The endothelium or inner lining of blood vessels is impaired with reduced vasodilator nitric oxide and increased vasoconstrictors such as endothelin-1 and angiotensin II, which leads to poor dilatation and increased tendency to constrict. Obesity-related complications such as hypertension, dyslipidemia, and diabetes worsen this effect.
ED in early-onset obesity in children with rare genetic variants affecting energy and hunger regulatory pathways has not been investigated. One of the noninvasive measures of endothelial function is via flow-mediated pulse amplitude tonometry. The novel assessment of ED in children with rare genetic variants aims to provide valuable insights into this understudied area.

Objective: To determine the difference in ED in children with rare genetic variants of obesity to those in a control group without any variants.

Design/Methods: In our endocrinology clinic, under IRB-approved protocol, we measured ED using EndoPat® in a group of children with severe obesity (BMI >95%), ages 1-21 years who have tested positive for known obesity related gene variants (PCNT, BBS, SEMA3, MC4R, ALMS1, and SDCCAG8), compared to a control group. EndoPAT® non-invasively measures Reactive Hyperemia Index (RHI) by analyzing pulse wave amplitudes in response to transient ischemia caused by 5 minutes of blood pressure cuff inflation. The device, equipped with finger probes, records baseline measurements for five minutes before inducing ischemia and 5 mins after cuff deflation, during which time, the subsequent hyperemic period is monitored. The computer will analyze pulse wave amplitudes to calculate the RHI index (reference >1.67). We will use descriptive statistics and t-tests for comparison of continuous variables between groups.