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

purposeTo elicit the signs and/or symptoms, and impacts on daily living experienced by patients with alpha-1 antitrypsin deficiency-associated liver disease (AATD-LD).

methodsA preliminary "concept list" of signs and/or symptoms, and impacts was developed from a targeted literature review, patient blog posts, and clinician interviews. Subsequently, one-to-one concept elicitation interviews involving English-speaking, US adults with AATD-LD and a protease inhibitor (Pi) ZZ or MZ genotype were conducted by trained interviewers following a central Institutional Review Board-approved discussion guide. An AATD-LD conceptual model was developed based on these findings. Concepts were "most salient" if reported by ≥ 8 patients with a mean bothersomeness/disturbance rating of ≥ 5, or "highly salient" if reported by > 5- < 8 patients with a mean bothersomeness/disturbance rating of ≥ 5 (scale: 0-10, 0: not at all bothersome/disturbing; 10: extremely bothersome/disturbing).

resultsFifteen patients were interviewed (median [range] age: 57 [28-78] years; Pi*ZZ, n = 12; Pi*MZ, n = 3). Of 41 signs and/or symptoms, the most salient were fatigue/tiredness, respiratory infections, shortness of breath, confusion/difficulty concentrating, and edema. Highly salient signs and/or symptoms were abdominal swelling, acid reflux, sleep disturbance, vomiting, abdominal pain/tenderness, itchiness, and back pain. Of 16 impacts, the most salient were on work and employment, leisure activities, and relationships. Impacts on mobility were highly salient.

conclusionSeveral concepts were frequently reported as moderately/highly bothersome/disturbing. Further investigation of the experience of patients with AATD-LD in a large, diverse population across all fibrosis stages and genotypes is warranted. Clinical outcome assessments that capture salient concepts are needed.