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

Talita Lemos Paulino†,
Marina Neto Rafael†,
Sonia Hix,
David Carlos Shigueoka,
Sergio Aron Ajzen,
Cristiane Kochi,
Fabíola Isabel Suano-SouzaEmail author,
Rosangela da Silva,
Beatriz T. Costa-Carvalho and
Roseli O. S. Sarni

†Contributed equally

Orphanet Journal of Rare Diseases201712:136

https://doi.org/10.1186/s13023-017-0689-y

Received: 15 December 2016

Accepted: 31 July 2017

Published: 4 August 2017

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 > 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.

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.