ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

Abstract

Ataxia telangiectasia (A-T) is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations which vary with age. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer. Respiratory manifestations include immune dysfunction leading to recurrent upper and lower respiratory infections; aspiration resulting from dysfunctional swallowing due to neurodegenerative deficits; inefficient cough; and interstitial lung disease/pulmonary fibrosis. Malnutrition is a significant comorbidity. The increased radiosensitivity and increased risk of cancer should be borne in mind when requesting radiological investigations. Aggressive proactive monitoring and treatment of these various aspects of lung disease under multidisciplinary expertise in the experience of national multidisciplinary clinics internationally forms the basis of this statement on the management of lung disease in A-T. Neurological management is outwith the scope of this document.

FIGURE 1

A plain chest radiograph of a patient with ataxia telangiectasia showing diffuse bibasal interstitial changes.

FIGURE 2

Chest computed tomography scan of a patient with ataxia telangiectasia showing diffuse bibasilar interstitial and interlobular reticular opacities with interlobular septal thickening, and bronchiectasis in the right lower lobe. Note that any radiological imaging should use the minimum possible doses, and concerns about radiosensitivity need to be addressed.