Progressive liver disease in patients with ataxia telangiectasia

  • Ataxia telangiectasia (A-T) is a devastating multi-system disorder characterized by progressive cerebellar ataxia, immunodeficiency, genetic instability, premature aging and growth retardation. Due to better care the patients get older than in the past and new disease entities like disturbed glucose tolerance and liver disease emerge. The objective of the present investigation is to determine the evolution of liver disease and its relation to age and neurological deterioration. The study included 67 patients aged 1 to 38 years with classical A-T. At least two measurements of liver enzymes were performed within a minimum interval of 6 months in 56 patients. The median follow-up period was 4 years (1–16 years). A total of 316 liver enzyme measurements were performed. For analysis, patients were divided into two age groups (Group 1: <12 years; group 2: ≥12 years). In addition, ultrasound of the liver and Klockgether Ataxia Score (KAS) were analyzed. We found significantly higher levels of alpha-fetoprotein (AFP) (226,8 ± 20.87 ng/ml vs. 565,1 ± 24.3 ng/ml, p < 0.0001), and liver enzymes like ALT (23.52 ± 0.77 IU/L vs. 87.83 ± 5.31 IU/L, p < 0.0001) in patients in group 2. In addition, we could show a significant correlation between age and AFP, GGT, and KAS. Ultrasound revealed hepatic steatosis in 11/19 (57.9%) patients in group 2. One female patient aged 37 years died due to a hepato-cellular carcinoma (HCC). Liver disease is present in the majority of older A-T patients. Structural changes, non-alcoholic fatty liver disease and fibrosis are frequent findings. Progress of liver disease is concomitant to neurological deterioration.

Download full text files

Export metadata

Author:Helena Donath, Sandra Wölke, Marius Theis, Ursula Heß, Viola Knop, Eva HerrmannORCiD, Dorothea Krauskopf, Matthias Kieslich, Ralf Schubert, Stefan Zielen
Pubmed Id:
Parent Title (English):Frontiers in Pediatrics
Publisher:Frontiers Media
Place of publication:Lausanne
Contributor(s):Enrico Baruffini
Document Type:Article
Year of Completion:2019
Date of first Publication:2019/11/07
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2019/12/11
Tag:Ataxia telangiectasia; ataxia score; hepatic steatosis; liver disease; neurodegeneration
Issue:Art. 458
Page Number:8
First Page:1
Last Page:8
Copyright © 2019 Pommerening,Woelke, Theis, Heß, Knop, Herrmann, Krauskopf, Kieslich, Schubert and Zielen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Institutes:Medizin / Medizin
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):License LogoCreative Commons - Namensnennung 4.0