Alpha-1 antitrypsin deficiency-associated chronic obstructive pulmonary disease: A family perspective

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6 Scopus citations


Alpha-1 antitrypsin (AAT) deficiency (AATD) is a genetic condition that can lead to the early onset of chronic obstructive pulmonary disease (COPD), a disorder that comprises elements of chronic bronchitis and emphysema. AATD is characterized by reduced levels of the AAT protease inhibitor, leading to unrestricted protease activity in the lung, which promotes destruction of lung tissue. In severe cases, patients with AATD have an increased mortality risk and, potentially, a poor quality of life due to more frequent COPD exacerbations and/or limitations on daily activity. However, the burden of AATD on members of the patient's immediate family who may serve as caregivers has not been described. Because the age range at which most patients are diagnosed with AATD may affect the economic status of an individual and/or of a family, it is likely that a diagnosis of AATD may have negative effects that extend beyond those on the diagnosed person to include immediate family members. Here, we review the literature to investigate the impact of the caregiver role of family members in disease states that affect an age group similar to AATD. Furthermore, we provide a case study showing the effect of AATD on immediate family members.

Original languageEnglish (US)
Pages (from-to)462-467
Number of pages6
JournalCOPD: Journal of Chronic Obstructive Pulmonary Disease
Issue number4
StatePublished - Jul 4 2015


  • augmentation therapy
  • caregiver
  • chronic bronchitis
  • emphysema

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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