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. 2023 Mar 11:2023:2877350.
doi: 10.1155/2023/2877350. eCollection 2023.

Liver Assessment in Patients with Ataxia-Telangiectasia: Transient Elastography Detects Early Stages of Steatosis and Fibrosis

H Donath  1 , S Wölke  1 , V Knop  2 , U Heß  1 , R P Duecker  1 , J Trischler  1 , T Poynard  3 , R Schubert  1 , S Zielen  1
Affiliations

Liver Assessment in Patients with Ataxia-Telangiectasia: Transient Elastography Detects Early Stages of Steatosis and Fibrosis

H Donath et al. Can J Gastroenterol Hepatol. .

Abstract

Background: Ataxia-telangiectasia (A-T) is a rare autosomal-recessive multisystem disorder characterized by pronounced cerebellar ataxia, telangiectasia, cancer predisposition, and altered body composition. Liver diseases with steatosis, fibrosis, and hepatocellular carcinoma are frequent findings in older patients but sensitive noninvasive diagnostic tools are lacking.

Objectives: To determine the sensitivity of transient elastography (TE) as a screening tool for early hepatic tissue changes and serum biomarkers for liver disease.

Methods: Thirty-one A-T patients aged 2 to 25 years were examined prospectively from 2016-2018 by TE. In addition, we evaluated the diagnostic performance of liver biomarkers for steatosis and necroinflammatory activity (SteatoTest and ActiTest, Biopredictive, Paris) compared to TE. For calculation and comparison, patients were divided into two groups (<12, >12 years of age).

Results: TE revealed steatosis in 2/21 (10%) younger patients compared to 9/10 (90%) older patients. Fibrosis was present in 3/10 (30%) older patients as assessed by TE. We found a significant correlation of steatosis with SteatoTest, alpha-fetoprotein (AFP), HbA1c, and triglycerides. Liver stiffness correlated significantly with SteatoTest, ActiTest, HbA1c, and triglycerides.

Conclusion: Liver disease is a common finding in older A-T patients. TE is an objective measure to detect early stages of steatosis and fibrosis. SteatoTest and ActiTest are a good diagnostic assessment for steatosis and necroinflammatory activity in patients with A-T and confirmed the TE results.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Steatosis assessed by TE. (b) Liver stiffness assessed by TE. Steatosis and liver stiffness are more pronounced in older patients. p < 0.001.
Figure 2
Figure 2
(a) Correlation of steatosis with age. (b) Correlation of liver stiffness with age. Steatosis and liver stiffness progress with age. p < 0.001.
Figure 3
Figure 3
(a) Correlation of ActiTest with triglycerides, (b) correlation of ActiTest with CRP, (c) correlation of ActiTest with CAP, and (d) correlation of ActiTest with LSM.
See this image and copyright information in PMC

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