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 A-T patients.
Methods: A retrospective review of patients, followed 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%) males, aged 14.6±5.2 years (range 5.9-26.1 years), were included. Twenty three patients (43.4%), age 9.9±5.1years, had consistently abnormal liver enzymes. The mean enzyme levels were: ALT 76.8±73.8 IU/l, AST 70±50 IU/l, AP 331±134 IU/l, and GGT 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 –moderate steatosis in both, and fibrosis in one patient. Progression to advanced liver disease occurred in 2/23 (9%) patients within 2-5 years. Dyslipidemia was significantly associated with abnormal liver enzymes: 3/30 (10%) of patients without vs. 10/23 (45.5%) of patients with abnormal liver enzymes, respectively (p<0.05, Fisher exact test). No correlation was found between hepatic involvement and HbA1C, gender, presence of malignancy or type of mutation.
Conclusions: Abnormal liver enzymes and fatty liver are common in A-T patients, and may progress to advanced liver disease at a young age. These findings are novel, and implicate that A-T patients with abnormal liver enzymes should be evaluated for the presence of liver disease.
