Abstract
BackgroundAtaxia 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 IR; liver involvement; carotid intima-media thickness (cIMT) and metabolic alterations associated to cardiovascular risk in A-T patients, and relate them with age.ResultsGlucose 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 = 0.619; p < 0.01), LDL/HDL-c (r = 0.490; p < 0.05) and the Apo-B levels (r = 0.545; p < 0.05) were positively correlated to cIMT.ConclusionsMetabolic 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.
Highlights
Ataxia telangiectasia (A-T) is a neurodegenerative disease that leads to mitochondrial dysfunction and oxidative stress
Given the lack of studies on the metabolic changes observed in A-T involved in the risk of developing chronic diseases, the aim of this study was to assess Insulin resistance (IR); liver involvement; carotid intima-media thickness and metabolic alterations associated to cardiovascular risk in A-T patients, and relate them with age
In a cross-sectional controlled study, we evaluated 18 A-T patients of both genders, between 5 and 25 years of age, who were diagnosed with A-T according to the criteria of the European Society for Immunodeficiencies (ESID) [13]
Summary
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 IR; liver involvement; carotid intima-media thickness (cIMT) and metabolic alterations associated to cardiovascular risk in A-T patients, and relate them with age. Clinical and biochemical alterations, such as reduction of lean mass, premature aging, insulin resistance (IR), type 2 diabetes, and risk of developing cardiovascular (CV) disease [1] have been recently added to the classic phenotype of ataxia telangiectasia (A-T). The disease is caused by mutations in the ataxiatelangiectasia mutated (ATM) gene [2] and causes reduction in antioxidant cell capacity and constant oxidative stress that are related to the development of chronic morbidities [3, 4]. A recent study showed high blood glucose and low insulin sensitivity in patients with A-T compared to healthy controls [7]
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