Patient-centered assessment of treatment for alpha-1 antitrypsin deficiency: literature review to identify concepts and measures for people with alpha1-antitrypsin deficiency.

ABSTRACT:

Background

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that can result in a range of illnesses, with chronic obstructive pulmonary disease (COPD) being one of the most common. Although some people obtain genetic testing that identifies AATD, many people are unaware that they have AATD until they develop COPD, often at a younger age than is typical. Treatment for AATD consists primarily of augmentation with AAT, requiring weekly infusions of blood products for most patients. This treatment can slow disease progression and improve symptoms, but is burdensome; thus, people with AATD could benefit from additional or alternate treatments. However, to guide the development of new treatments, researchers need to identify which outcomes matter to people with AATD.

Method

SUBMITTER: Secinti E 

PROVIDER: S-EPMC11846308 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature