Agreement of cardiovascular risk in ataxia-telangiectasia mutated heterozygotes and their children with Ataxia-telangiectasia

Abstract

ABSTRACT Objective Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disease caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. The parents do not manifest the disease but are heterozygous carriers of a pathogenic ATM mutation that may be associated with coronary atherosclerosis and increased cholesterol levels. The objective of this study was to verify whether there is an agreement between the biomarkers of the lipid profile and the carotid intima-media thickness (IMT) of mothers and their children with A-T. Methods This cross-sectional study included A-T patients (n = 11), their mothers (n = 9), and controls (n = 20). Anthropometric data, lipid profile markers, and apolipoproteins (Apo) A-1 and B were collected and carotid IMT was performed. Results Dyslipidemia was found in 7/11 of patients with A-T and 6/9 of mothers with a strong level of agreement (po = 1.00; Kappa = 1.00;p = 0.001). Regarding the variables of the lipid profile, only NHDL-c (ICC = 0.64;p = 0.01) and the ApoB/ApoA-1 ratios (po = 0.72;Kappa = 0.14;p = 0.62) and TG/HDL-c (ICC = 0.54;p = 0.04) showed agreement between mothers and children. A significant difference (p < 0.001) of the carotid IMT was found in A-T patients when compared to their mothers. Conclusion The agreement for lipid metabolism biomarkers associated with cardiovascular risk between children with A-T and their mothers emphasizes the importance of continuous monitoring of both.