Research Article Details

Article ID: A52313
PMID: 28778179
Source: Orphanet J Rare Dis
Title: 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 IR; liver involvement; carotid 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&#160;>&#160;1 was observed in 10/17 (58.8%). A strong positive correlation was observed between insulin sum concentrations with ALT (r&#160;=&#160;0.782, p&#160;<&#160;0.004) and age (r&#160;=&#160;0.818, p&#160;=&#160;0.002). Dyslipidemia was observed in 55.5% of the patients. The apolipoprotein (Apo-B)/ApoA-I ratio (r&#160;=&#160;0.619; p&#160;<&#160;0.01), LDL/HDL-c (r&#160;=&#160;0.490; p&#160;<&#160;0.05) and the Apo-B levels (r&#160;=&#160;0.545; p&#160;<&#160;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.
DOI: 10.1186/s13023-017-0689-y