Lung Disease

Respiratory symptoms and lung complications are common.

Recurrent or chronic respiratory symptoms during the first few years of life can adversely affect lung function later in life. Children and adults with A-T are at increased risk for a decline in lung function during respiratory illnesses, after anesthesia for a surgical procedure, and during treatment for malignancies.

Chronic lung disease develops in more than 25 percent of people with A-T.

Three major types of lung disease can develop:

  • Recurrent/chronic sinopulmonary infections and bronchiectasis, a condition in which bronchial tubes are permanently damaged, resulting in recurrent lower airway infections. These problems may be caused or made worse by immunodeficiency and aspiration.
  • Inability to clear mucus, because of ineffective cough and swallowing dysfunction. Difficulty taking deep breaths and an ineffective cough can make it difficult to clear oral and bronchial secretions. This can lead to prolonged respiratory symptoms following common viral respiratory illnesses.
  • Restrictive interstitial lung disease or pulmonary fibrosis causes a small number of individuals to have decreased pulmonary reserve, trouble breathing, a need for supplemental oxygen and chronic cough in the absence of lung infections. Recurrent injury to the lungs caused by chronic infections or aspiration may cause lung fibrosis and scarring. The damage may be worsened because of inadequate tissue repair in ATM-deficient cells.

Some children and adults with A-T have more than one type of lung disease concurrently.  Many people will develop swallowing problems as they age, which increases their risk of coughing, wheezing, or aspiration and other types of lung injury (See Feeding, Swallowing and Nutrition).

Lung disease may impair sleep efficiency in people with A-T.  This can cause fatigue with detrimental effects on many aspects of health. Sleep studies or polysomnograms can help detect breathing problems such upper airway obstruction, hypoxia and/or hypercarbia. If found, these conditions can be treated with supplemental oxygen alone or with non-invasive ventilation using CPAP or BIPAP.  Recently an association has been reported between higher systemic levels of the pro-inflammatory cytokines interleukin 6 (IL6) and IL8 and lower lung function in children and young adults with A-T. These findings suggest that inflammation may play a role in impairing lung function in people with A-T.

Managing Lung Disease

  • All people with A-T should be seen annually by a pulmonary specialist starting at two years of age.
  • Lung function should be measured by spirometry and maximum inspiratory and expiratory pressure measurements.
  • If tolerated, frequent activity and exercise should be encouraged to help improve respiratory health and maintain pulmonary function. Activity should also be encouraged in those who are wheelchair-bound to enhance deep breathing and maintain respiratory muscle strength. No activity or exercise should be performed to the point of exhaustion.
  • Maintaining an adequate upright midline posture may help with improved chest wall development and better gas exchange, particularly as the child is going through a growing spurt.
  • Consider airway clearance techniques (such as chest physiotherapy or cough-assist devices) in persons with acute or chronic chest congestion, or wet cough.
  • Treat upper (sinusitis) and lower (bronchitis, pneumonia) respiratory tract infections aggressively to limit development of chronic lung disease.
  • If respiratory symptoms (such as a persistent cough, chest congestion, and/or nasal congestion) persist for more than seven days after an acute illness, evaluation by a doctor is recommended.
  • Identify and treat immunodeficiency.
  • Consider use of chronic antibiotic treatment for people with bronchiectasis.
  • Maintain nutrition and minimize aspiration. Feeding through a gastrostomy tube may be recommended (See Feeding, Swallowing, and Nutrition).
  • History of shortness of breath, with or without exertion may indicate interstitial lung disease and should be evaluated. Treatment with oral steroids and other drugs to reduce inflammation may be indicated.
  • Get a yearly killed (injected) influenza vaccine (The influenza vaccine should also be given to all members of the household.)
  • Get a pneumococcal conjugate vaccine every 5 years. (See Vaccine Schedules in Immune System Problems.)
  • Avoid contact with people who smoke, and limit exposure to air pollutants and respiratory irritants.

Surgery and Procedures Requiring Sedation Or Anesthesia

Surgery should be performed only at centers with an Intensive Care Unit (ICU). Even a dental procedure requiring sedation could be considered high risk for some people with A-T depending on age and lung function. A pre-operative evaluation of lung function should be performed in all people with A-T regardless of age and whether or not they have a history of breathing problems. This evaluation will help the anesthesiologist understand the risks and better anticipate the complications of sedation or general anesthesia.

People with A-T may have difficulty coming off the ventilator after general anesthesia. Possible alternatives to general anesthesia and strategies that maximize airway clearance following anesthesia should be considered.

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