Liver disease in pediatric patients with ataxia telangiectasia: A novel report

Batia Weiss, Alexander Krauthammer, Michalle Soudack, Avishay Lahad, Ifat Sarouk, Raz Somech, Gali Heimer, Bruria Ben-Zeev, Andreea Nissenkorn

Research output: Contribution to journalArticlepeer-review


Objective: Ataxia telangiectasia (A-T) is a rare genetic multiorgan disease. Although gastrointestinal involvement is known, hepatic involvement in A-T has not been investigated. We aimed to study the hepatic involvement in a large cohort of patients with A-T. Methods: A retrospective review of patients, studied from January 1986 to January 2015 at a National A-T Center. Clinical data including demographic, genetic, laboratory, nutritional, radiographic, and histological data were retrieved. Results: Fifty-three patients, 27 (49%) boys, age 14.6±5.2 years (range 5.9-26.1 years), were included. Twenty-three patients (43.4%), age 9.9±5.1 years, had consistently abnormal liver enzymes. The mean enzyme levels were alanine aminotransferase 76.8±73.8 IU/L, aspartate aminotransferase 70±50 IU/L, alkaline phosphatase 331±134 IU/L, and gamma glutamyl transferase 114.7±8 IU/L. Evaluation of other etiology of liver disease was negative. Ultrasonography revealed fatty liver in 9 of them (39%). Liver biopsy was performed in 2 patients, revealing mild-tomoderate steatosis in both, and fibrosis in 1 patient. Progression to advanced liver disease occurred in 2 of 23 (9%) patients within 2 to 5 years. Dyslipidemia was significantly associated with abnormal liver enzymes: 3 of 30 (10%) patients without abnormal liver enzymes versus 10 of 23 (45.5%) patients with abnormal liver enzymes, respectively (P<0.05, Fisher exact test). No correlation was found between hepatic involvement and HbA1C, sex, presence of malignancy, or type of mutation. Conclusions: Abnormal liver enzymes and fatty liver are common in patients with A-T and may progress to advanced liver disease at a young age. These findings are novel and implicate that patients with A-T with abnormal liver enzymes should be evaluated for the presence of liver disease.

Original languageEnglish
Pages (from-to)550-555
Number of pages6
JournalJournal of Pediatric Gastroenterology and Nutrition
Issue number4
StatePublished - 2016


  • ATM
  • Dyslipidemia
  • Fatty Liver
  • Hepatic steatosis
  • Metabolic syndrome


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