Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews

What is it about?

Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder that leads to lung and liver disease in some patients. We carried out reviews of the literature to identify published articles that have addressed the clinical burden of AATD and its impact on patients and their caregivers’ quality of life and to assess the healthcare costs that are linked with this condition. Our literature reviews confirmed that AATD is associated with substantial lung and liver morbidity. Patients may have a poorer quality of life than those with non-AATD chronic obstructive pulmonary disease, and caregivers have considerable losses of personal time due to caring responsibilities, as well as stress and anxiety. Furthermore, AATD incurs high medical costs resulting from physician visits, treatment and hospital stays.

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