Objective: Ataxia telangiectasia (A-T) is a rare neurodegenerative disease caused by mutation of the ATM gene and characterized by severe neurological impairment, sino-pulmonary infections, tendency for malignancy, variable immunodeficiency and significantly low life expectancy. The main cause of death is respiratory failure or cancer. The treatment is supportive. We aimed to study the influence of PEG insertion in a large cohort of A-T patients. Although PEG insertion is performed to improve their quality of life and increase their caloric intake, its influence on their health, nutrition status and lung function were not previously described in the literature.
Methods: A prospective review of patients, followed from January 1986 to January 2015 at the Israeli national A-T Center. Clinical data including demographic, nutritional status (BMI) and lungs function one year before and one year after PEG insertion was evaluated.
Results: PEG was inserted in 12(22.6%) of patients. Of these 12, 6 were able to undergo pulmonary function testing. Lung function one year prior to and one year after PEG insertion was compared between these 6 and a randomly chosen group of 6 A-T patients of similar age.
Rate of lung function deterioration in PEG-less patients was higher than in those patients in whom a PEG was inserted. We found a statistically significant decrease in FEV1 and FVC levels in PEG-less patients, while patients with PEGs maintained their lung function. We demonstrated a significant deterioration in lung function between the ages of 12 and 15
Conclusions:
PEG insertion may be beneficial for A-T patients.
