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

IF 3.3 3区 医学 Q1 HEALTH CARE SCIENCES & SERVICES Quality of Life Research Pub Date : 2025-03-13 DOI:10.1007/s11136-025-03926-x
Virginia C Clark, Suna Park, Robert Krupnick, Nicole Sparling, Jason Ritchie, Chitra Karki, Justin A Reynolds
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Abstract

Purpose: 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).

Methods: A 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).

Results: Fifteen 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.

Conclusion: Several 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.

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来源期刊
Quality of Life Research
Quality of Life Research 医学-公共卫生、环境卫生与职业卫生
CiteScore
6.50
自引率
8.60%
发文量
224
审稿时长
3-8 weeks
期刊介绍: Quality of Life Research is an international, multidisciplinary journal devoted to the rapid communication of original research, theoretical articles and methodological reports related to the field of quality of life, in all the health sciences. The journal also offers editorials, literature, book and software reviews, correspondence and abstracts of conferences. Quality of life has become a prominent issue in biometry, philosophy, social science, clinical medicine, health services and outcomes research. The journal''s scope reflects the wide application of quality of life assessment and research in the biological and social sciences. All original work is subject to peer review for originality, scientific quality and relevance to a broad readership. This is an official journal of the International Society of Quality of Life Research.
期刊最新文献
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