ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

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 immu...

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Bibliographic Details
Published in:European respiratory review 2015-12, Vol.24 (138), p.565-581
Main Authors: Bhatt, Jayesh M, Bush, Andrew, van Gerven, Marjo, Nissenkorn, Andreea, Renke, Michael, Yarlett, Lian, Taylor, Malcolm, Tonia, Thomy, Warris, Adilia, Zielen, Stefan, Zinna, Shairbanu, Merkus, Peter J F M
Format: Article
Language:English
Subjects:
Ataxia Telangiectasia - diagnosis
Ataxia Telangiectasia - genetics
Ataxia Telangiectasia - immunology
Ataxia Telangiectasia - mortality
Ataxia Telangiectasia - physiopathology
Ataxia Telangiectasia - therapy
Combined Modality Therapy
Comorbidity
Cooperative Behavior
ERS Statement
Genetic Predisposition to Disease
Humans
Interdisciplinary Communication
Lung - immunology
Lung - pathology
Lung - physiopathology
Lung Diseases - diagnosis
Lung Diseases - genetics
Lung Diseases - immunology
Lung Diseases - mortality
Lung Diseases - physiopathology
Lung Diseases - therapy
Patient Care Team - standards
Predictive Value of Tests
Pulmonary Medicine - standards
Risk Factors
Spirometry - standards
Tomography, X-Ray Computed - standards
Treatment Outcome
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Description
Summary: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.
ISSN:0905-9180
1600-0617
DOI:10.1183/16000617.0066-2015