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.

Ataxia telangiectasia: why should the ERS care?

“…The combined neurological and immunological contributions to lung disease in A-T, however, are unlike that in CF and emphasise the need for multidisciplinary expertise to manage this devastating disease. Specialised national clinics provide multidisciplinary expertise to manage patients with A-T and this has been synthesised in this task force report [1]. But above all, think of the possibility of an early diagnosis, before multiple radiological investigations have been performed!…”

“…The answer is that ataxia telangiectasia (A-T) patients will present to respiratory paediatricians for diagnosis, when standard testing, if the diagnosis is not made, may do irreparable harm; and both adult and paediatric respiratory physicians will be involved in managing the respiratory disease, which is a major cause of morbidity and mortality. So there is a real "need to know" which is why the ERS convened a task force on A-T, whose findings are published in the European Respiratory Review [1].…”

TheEuropean Respiratory Review: farewell from the editor with confidence for the future

“…Thematic review series have also been introduced in the Review, with four series published in 2013-2015 on thoracic oncology [3], pulmonary rehabilitation [4], acute respiratory distress syndrome [5], and asthma [6]. The Review also publishes ERS task force reports and supportive documents [7][8][9][10][11][12], as illustrated in this issue, which contains a comprehensive statement on the multidisciplinary respiratory management of ataxia telangiectasia [13]. In addition to the core review articles, the Review publishes editorials, letters to the Editor, correspondence and images in respiratory medicine.…”

Monoallelic germlineATMmutation and organising pneumonia induced by radiation therapy to the breast

“…Pulmonary manifestations of ataxia telangiectasia [9,10] include immune dysfunction, leading to recurrent infections of the upper and lower respiratory tract, aspiration as a consequence of dysfunctional swallowing due to neurological deficit, inefficient cough and interstitial lung disease. Interstitial lung disease is present in about 25% of patients with ataxia telangiectasia, with a mean age of onset of 17.5 years.…”