2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The impact of modulator therapies on lipids and fatty acids profiles in children and adolescents with Cystic Fibrosis.

Pdf Summary

A study was conducted to evaluate the impact of CFTR modulator therapies on lipid and fatty acid profiles in children and adolescents with Cystic Fibrosis (CF). Blood samples were collected from 162 CF patients and 60 age-matched controls. The results showed that CF patients had lower concentrations of total, LDL, and non-HDL cholesterol compared to controls, indicating dyslipidemia. CF patients not receiving modulator therapy had lower HDL cholesterol and HDL particle number compared to controls. However, CF patients on modulator therapy had significantly higher HDL cholesterol and HDL particle number. LDL particle size was smaller in CF patients, which is associated with increased risk of atherosclerosis. The study also found that triglycerides and atherogenic LDL particle number were significantly lower in CF patients on modulator therapy compared to those not receiving the therapy. Only 10% of CF patients on modulators had high triglyceride levels compared to 36% of those not on modulators. However, CFTR modulators did not resolve essential fatty acid deficiency (EFAD), a known complication in CF. CF patients with severe CF-causing variants had lower levels of omega-6 linoleic acid and higher levels of mead acid and Triene/Tetraene (T/T) ratio, indicating EFAD. Overall, CFTR modulator therapy had a beneficial effect on CF dyslipidemia, but did not fully resolve EFAD. The study suggests that lipids and fatty acids should be routinely evaluated in children with CF to allow for timely dietary interventions. Genotype was found to be correlated with the biochemical phenotype, with CF patients with severe genotypes more likely to have EFAD.

Asset Subtitle

Presenting Author - Tatiana Yuzyuk, PhD, FACMG; Co-Author - Catherine McDonald, PhD; Co-Author - Irene De Biase; Co-Author - Lisa Johnson, PhD; Co-Author - Yuan Ji, PhD, MBA, FACMG; Co-Author - Nicole Williams, MS, RDN; Co-Author - Suzanne Meihls, BSN; Co-Author - Fadi Asfour, MD;

Meta Tag

Genotype-Phenotype Correlations

Respiratory System

Therapy

Co-Author Catherine McDonald, PhD

Co-Author Irene De Biase

Co-Author Lisa Johnson, PhD

Co-Author Yuan Ji, PhD, MBA, FACMG

Co-Author Nicole Williams, MS, RDN

Co-Author Suzanne Meihls, BSN

Co-Author Fadi Asfour, MD

Presenting Author Tatiana Yuzyuk, PhD, FACMG

Keywords

CFTR modulator therapies

lipid profiles

fatty acid profiles

Cystic Fibrosis

dyslipidemia

cholesterol

HDL cholesterol

LDL cholesterol

triglycerides

atherosclerosis