Reversible airway obstruction in children with ataxia telangiectasia

Introduction: Lung disease is a significant cause of the short life span of ataxia telangiectasia (A-T) patients. Objective lung function measurements are difficult to achieve in A-T. Aim: To assess lung function by spirometry in relation to the clinical characteristics of A-T patients followed up at the Israeli Ataxia Telangiectasia National Clinic. Patients and Methods: Medical and spirometry data were collected from 27 A-T patients during 2004-2007. Laboratory, nutritional condition, mode of treatment, pulmonary status, and malignancieswere assessed. The spirometry values FVC, FEV₁, FEV _0.5, FEF_25-75, PEF and time rise to peak flow were analyzed individually and values were compared to those of healthy age-matched children. Results: Eleven patients (40.7%) were found to suffer from asthma according to clinical symptoms and response to bronchodilators. We found significant reduction in FEV₁ and FEV_0.5 (z-scores: -0.84±0.7 SD, -0.7±0.6 SD; P=0.0014 and P=0.003, respectively), in relation to healthy predicted values. FEF25-75 was significantly lower than that in healthy children in 5 of 11 asthmatic patients. All 27 patients showed higher than healthy FEV₁/FVC and FEV_0.5/FVC ratios (z-scores 0.68±0.99 SD, P<0.0015, and 2.12±1.50 SD, P<0.0015, respectively). The rise time to peak flow was three-fold longer than that of healthy children. Conclusion: Obstructive lung disease is common among A-T patients. Maximal peak flow reduction and prolonged rise time to peak flow may be the first signs of pulmonary involvement in these patients. Early treatment with anti-asthma therapy, bronchodilators, and steroids, may prevent further pulmonary deterioration and improve the prognosis of A-T patients.