Anzueto Antonio
a South Texas Veterans Health Care System, Audie L. Murphy Hospital, and University of Texas Health Science Center , San Antonio , Texas , USA.
COPD. 2015 Aug;12(4):462-7. doi: 10.3109/15412555.2014.974746.
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.
α-1抗胰蛋白酶（AAT）缺乏症（AATD）是一种遗传性疾病，可导致慢性阻塞性肺疾病（COPD）提前发病，COPD是一种包含慢性支气管炎和肺气肿成分的疾病。AATD的特征是AAT蛋白酶抑制剂水平降低，导致肺部蛋白酶活性不受限制，从而促进肺组织破坏。在严重情况下，AATD患者的死亡风险增加，并且由于COPD更频繁发作和/或日常活动受限，其生活质量可能较差。然而，尚未描述AATD对可能担任照顾者的患者直系亲属的影响。由于大多数患者被诊断出患有AATD的年龄范围可能会影响个人和/或家庭的经济状况，因此AATD的诊断可能产生的负面影响可能不仅限于被诊断者，还包括直系亲属。在此，我们回顾文献以调查家庭成员的照顾者角色在影响与AATD相似年龄组的疾病状态中的影响。此外，我们提供了一个案例研究，展示了AATD对直系亲属的影响。
