Liver Disease in Pediatric Patients With Ataxia Telangiectasia

• DOI: 10.1097/mpg.0000000000001036
• Publication Date: 2015-11-20T13:12:52Z
• Authors: Batia Weiss; Alexander Krautha...; Michalle Soudack; Avishay Lahad; Ifat Sarouk; Raz Somech; Gali Heimer; Bruria Ben‐Zeev; Andreea Nissenkorn
• Keywords: Adult; Male; 0301 basic medicine; Adolescent; Biopsy; Liver Diseases; Ataxia Telangiectasia Mutated Proteins; 3. Good health; Cohort Studies; Ataxia Telangiectasia; 03 medical and health sciences; Liver; Non-alcoholic Fatty Liver Disease; Child, Preschool; Mutation; Disease Progression; Prevalence; Humans; Female; Israel; Child; Dyslipidemias; Follow-Up Studies

ABSTRACTObjective: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‐to‐moderate 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.