ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

Eur Respir Rev. 2015 Dec;24(138):565-81. doi: 10.1183/16000617.0066-2015.


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.

Publication types

  • Practice Guideline
  • Review

MeSH terms

  • Ataxia Telangiectasia / diagnosis
  • Ataxia Telangiectasia / genetics
  • Ataxia Telangiectasia / immunology
  • Ataxia Telangiectasia / mortality
  • Ataxia Telangiectasia / physiopathology
  • Ataxia Telangiectasia / therapy*
  • Combined Modality Therapy
  • Comorbidity
  • Cooperative Behavior
  • Genetic Predisposition to Disease
  • Humans
  • Interdisciplinary Communication
  • Lung Diseases / diagnosis
  • Lung Diseases / genetics
  • Lung Diseases / immunology
  • Lung Diseases / mortality
  • Lung Diseases / physiopathology
  • Lung Diseases / therapy*
  • Lung* / immunology
  • Lung* / pathology
  • Lung* / physiopathology
  • Patient Care Team / standards*
  • Predictive Value of Tests
  • Pulmonary Medicine / standards*
  • Risk Factors
  • Spirometry / standards
  • Tomography, X-Ray Computed / standards
  • Treatment Outcome