Objective: Ataxia telangiectasia (A-T) is a rare, genetic disease. Data regarding gastrointestinal and nutritional aspects in A-T are scarce. We aimed to describe the gastrointestinal and nutritional manifestation during a long term follow-up in a national cohort of A-T patients.
Methods: A retrospective chart review of 53 A-T patients, followed 1986 - 2015. Demographic characteristics, nutritional parameters, laboratory tests, video-fluoroscopic swallow studies, information on gastrostomy tube insertion and malignancies were retrieved. BMI was converted to BMI-Z score for age and gender. We compared the age specific caloric intake of A-T patients to the expected energy requirement (EER) of a healthy population with light physical activity- physical activity level (PAL) 1.5.
Results: 53 patients, 28 (53%) males, aged 14.6±5.2 years, were included. BMIZ-score inversely correlated with age (r=0.48, p<0.004). During early childhood, BMIZ-scores spanned the normal range. Decline in BMI percentiles was observed after the age of 4 years in males and 7 years in females. Percentage of caloric intake (compared to EER in healthy population with PAL 1.5) had negative correlation with age, (r=-0.5, p<0.002). Cough and choking during meals correlated with decline in weight, (p<0.002). PEG insertion led to increase in BMIZ
Conclusions: There is a progressive growth failure and low nutritional intake with age in A-T patients, starting in early childhood in males, and more prominent in patients with upper respiratory symptoms during meals. A pro-active approach towards children with A-T, and earlier PEG insertion as soon as the BMIZ start decreasing should be considered.
