Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?

Abstract

Background: Ataxia telangiectasia (A-T) is a neurodegenerative disease that leads to mitochondrial dysfunction and oxidative stress. Insulin resistance (IR), type 2 diabetes and the risk for development of cardiovascular disease was recently associated as an extended phenotype of the disease. We aimed to assess IRliver involvementcarotid intima-media thickness (cIMT) and metabolic alterations associated to cardiovascular risk in A-T patients, and relate them with age. Results: Glucose metabolism alterations were found in 54.6% of the patients. Hepatic steatosis was diagnosed in 11/17 (64.7%) A-T patients. AST/ALT ratio > 1 was observed in 10/17 (58.8%). A strong positive correlation was observed between insulin sum concentrations with ALT (r = 0.782, p < 0.004) and age (r = 0.818, p = 0.002). Dyslipidemia was observed in 55.5% of the patients. The apolipoprotein (Apo-B)/ApoA-I ratio (r = 0.619p < 0.01), LDL/HDL-c (r = 0.490p < 0.05) and the Apo-B levels (r = 0.545p < 0.05) were positively correlated to cIMT. Conclusions: Metabolic disorders implicated in cardiovascular and liver diseases are frequently observed in adolescent A-T patients and those tend to get worse as they become older. Therefore, nutritional intervention and the use of drugs may be necessary.CAPES Foundation, Ministry of Education of Brazil, Brasilia DF, BrazilFed Univ São Paulo UNIFESP, Escola Paulista Med, Dept Pediat, Rua Otonis 725, BR-04025002 São Paulo, SP, BrazilABC Fdn FMABC, Fac Med ABC, Dept Morphol & Physiol, Santo Andre, SP, BrazilFed Univ São Paulo UNIFESP, Escola Paulista Med, Dept Diagnost Imaging, São Paulo, SP, BrazilSanta Casa São Paulo Sch Med Sci FCMSCSP, São Paulo, SP, BrazilFed Univ Alfenas UNIFAL, Sch Nutr, Alfenas, MG, BrazilFed Univ São Paulo UNIFESP, Escola Paulista Med, Dept Pediat, Rua Otonis 725, BR-04025002 São Paulo, SP, BrazilFed Univ São Paulo UNIFESP, Escola Paulista Med, Dept Diagnost Imaging, São Paulo, SP, BrazilWeb of Scienc