Patient experience of alpha-1 antitrypsin deficiency-associated liver disease: a qualitative study

• DOI: 10.1007/s11136-025-03926-x
• Publication Date: 2025-03-13T13:35:13Z
• Authors: Virginia C. Clark; Suna Park; Robert Krupnick; Nicole Sparling; Jason Ritchie; Chitra Karki; Justin A. Reynolds
• Keywords: Alpha 1-antitrypsin deficiency; Alpha (finance); Liver disease

To elicit the signs and/or symptoms, and impacts on daily living experienced by patients with alpha-1 antitrypsin deficiency-associated liver disease (AATD-LD). A preliminary "concept list" of was developed from a targeted literature review, patient blog posts, clinician interviews. Subsequently, one-to-one concept elicitation interviews involving English-speaking, US adults AATD-LD protease inhibitor (Pi) ZZ or MZ genotype were conducted trained interviewers following central Institutional Review Board-approved discussion guide. An conceptual model based these findings. Concepts "most salient" if reported ≥ 8 mean bothersomeness/disturbance rating 5, "highly > 5– < 5 (scale: 0–10, 0: not at all bothersome/disturbing; 10: extremely bothersome/disturbing). Fifteen interviewed (median [range] age: 57 [28–78] years; Pi*ZZ, n = 12; Pi*MZ, 3). Of 41 most salient fatigue/tiredness, respiratory infections, shortness breath, confusion/difficulty concentrating, edema. Highly symptoms abdominal swelling, acid reflux, sleep disturbance, vomiting, pain/tenderness, itchiness, back pain. 16 impacts, work employment, leisure activities, relationships. Impacts mobility highly salient. Several concepts frequently as moderately/highly bothersome/disturbing. Further investigation experience in large, diverse population across fibrosis stages genotypes is warranted. Clinical outcome assessments that capture are needed.