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.

中文翻译：

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共济失调-毛细血管扩张症患者的肝脏评估：瞬时弹性成像检测脂肪变性和纤维化的早期阶段

背景。共济失调-毛细血管扩张症 (AT) 是一种罕见的常染色体隐性多系统疾病，其特征是明显的小脑性共济失调、毛细血管扩张症、癌症易感性和身体成分改变。伴有脂肪变性、纤维化和肝细胞癌的肝病在老年患者中很常见，但缺乏灵敏的无创诊断工具。目标。确定瞬时弹性成像 (TE) 作为早期肝组织变化和肝病血清生物标志物筛查工具的敏感性。方法. 2016-2018 年，TE 对 31 名 2 至 25 岁的 AT 患者进行了前瞻性检查。此外，我们评估了与 TE 相比，肝脏生物标志物对脂肪变性和坏死性炎症活动（SteatoTest 和 ActiTest，Biopredictive，巴黎）的诊断性能。为了计算和比较，患者被分为两组（<12 岁，>12 岁）。结果。与 9/10 (90%) 的老年患者相比，TE 显示 2/21 (10%) 的年轻患者发生脂肪变性。通过 TE 评估，3/10 (30%) 的老年患者存在纤维化。我们发现脂肪变性与 SteatoTest、甲胎蛋白 (AFP)、HbA1c 和甘油三酯之间存在显着相关性。肝硬度与 SteatoTest、ActiTest、HbA1c 和甘油三酯显着相关。结论. 肝病是老年 AT 患者的常见发现。TE 是检测脂肪变性和纤维化早期阶段的客观指标。SteatoTest 和 ActiTest 是对 AT 患者脂肪变性和坏死性炎症活动的良好诊断评估，并证实了 TE 结果。