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. 2023 Nov 2:7:e44420.
doi: 10.2196/44420.

Patient Journey Toward a Diagnosis of Light Chain Amyloidosis in a National Sample: Cross-Sectional Web-Based Study

Xuelin Dou #  1 , Yang Liu #  1 , Aijun Liao  2 , Yuping Zhong  3 , Rong Fu  4 , Lihong Liu  5 , Canchan Cui  6 , Xiaohong Wang  7 , Jin Lu  1
Affiliations

Patient Journey Toward a Diagnosis of Light Chain Amyloidosis in a National Sample: Cross-Sectional Web-Based Study

Xuelin Dou et al. JMIR Form Res. .

Abstract

Background: Systemic light chain (AL) amyloidosis is a rare and multisystem disease associated with increased morbidity and a poor prognosis. Delayed diagnoses are common due to the heterogeneity of the symptoms. However, real-world insights from Chinese patients with AL amyloidosis have not been investigated.

Objective: This study aimed to describe the journey to an AL amyloidosis diagnosis and to build an in-depth understanding of the diagnostic process from the perspective of both clinicians and patients to obtain a correct and timely diagnosis.

Methods: Publicly available disease-related content from social media platforms between January 2008 and April 2021 was searched. After performing data collection steps with a machine model, a series of disease-related posts were extracted. Natural language processing was used to identify the relevance of variables, followed by further manual evaluation and analysis.

Results: A total of 2204 valid posts related to AL amyloidosis were included in this study, of which 1968 were posted on haodf.com. Of these posts, 1284 were posted by men (median age 57, IQR 46-67 years); 1459 posts mentioned renal-related symptoms, followed by heart (n=833), liver (n=491), and stomach (n=368) symptoms. Furthermore, 1502 posts mentioned symptoms related to 2 or more organs. Symptoms for AL amyloidosis most frequently mentioned by suspected patients were nonspecific weakness (n=252), edema (n=196), hypertrophy (n=168), and swelling (n=140). Multiple physician visits were common, and nephrologists (n=265) and hematologists (n=214) were the most frequently visited specialists by suspected patients for initial consultation. Additionally, interhospital referrals were also commonly seen, centralizing in tertiary hospitals.

Conclusions: Chinese patients with AL amyloidosis experienced referrals during their journey toward accurate diagnosis. Increasing awareness of the disease and early referral to a specialized center with expertise may reduce delayed diagnosis and improve patient management.

Keywords: AL amyloidosis; big data; machine model; natural language processing; network analysis; rare disease; systemic light chain amyloidosis; web-based.

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Conflict of interest statement

Conflicts of Interest: None declared.

Figures

Figure 1
Figure 1
Flow chart of post selection and processing of information. The left side shows the method for data cleaning, and the right side shows the method for refinement of the natural language processing model.
Figure 2
Figure 2
Intrahospital referrals of suspected patients with light chain amyloidosis (n=791) shown as a Sankey diagram in which the width of the arrows is proportional to the flow quantity. The source node (words labeled with "a") is the initially visited department, and the target nodes are the second (words labeled with "b") or later (words labeled with "c," "d," or "e") visited departments; the value to set the flow volume is the ratio of patients who visited the specific department versus all patients for whom department visit data were available. The labels show the department of the patients’ medical visits. ENT: ear, nose, and throat.
Figure 3
Figure 3
Interhospital referrals of suspected patients with light chain amyloidosis (n=1138) shown as a Sankey diagram in which the width of the arrows is proportional to the flow quantity. The source node (words labeled with "a") is the initially visited location, and the target nodes are the second (words labeled with "b") or later (words labeled with "c," "d," or "e") visited location; the value to set the flow volume is the ratio of patients who visited the specific location versus all patients for whom location data were available. The labels show the location of the patients’ medical visits. ENT: ear, nose, and throat.
See this image and copyright information in PMC

References

    1. Kumar N, Zhang NJ, Cherepanov D, Romanus D, Hughes M, Faller DV. Global epidemiology of amyloid light-chain amyloidosis. Orphanet J Rare Dis. 2022 Jul 19;17(1):278–288. doi: 10.1186/s13023-022-02414-6. https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02414-6 10.1186/s13023-022-02414-6 - DOI - DOI - PMC - PubMed
    1. Quock T, Yan T, Chang E, Guthrie S, Broder M. Epidemiology of AL amyloidosis: a real-world study using US claims data. Blood Adv. 2018 May 22;2(10):1046–1053. doi: 10.1182/bloodadvances.2018016402. https://europepmc.org/abstract/MED/29748430 bloodadvances.2018016402 - DOI - PMC - PubMed
    1. Merlini G, Dispenzieri A, Sanchorawala V, Schönland Stefan O, Palladini G, Hawkins PN, Gertz MA. Systemic immunoglobulin light chain amyloidosis. Nat Rev Dis Primers. 2018 Oct 25;4(1):38–57. doi: 10.1038/s41572-018-0034-3.10.1038/s41572-018-0034-3 - DOI - PubMed
    1. Lousada I, Comenzo RL, Landau H, Guthrie S, Merlini G. Light chain amyloidosis: patient experience survey from the Amyloidosis Research Consortium. Adv Ther. 2015 Oct;32(10):920–928. doi: 10.1007/s12325-015-0250-0. https://europepmc.org/abstract/MED/26498944 10.1007/s12325-015-0250-0 - DOI - PMC - PubMed
    1. Muchtar E, Gertz MA, Lacy MQ, Go RS, Buadi FK, Dingli D, Grogan M, AbouEzzeddine OF, Hayman SR, Kapoor P, Leung N, Fonder A, Hobbs M, Hwa YL, Gonsalves W, Warsame R, Kourelis TV, Russell S, Lust JA, Lin Y, Zeldenrust S, Kyle RA, Rajkumar SV, Kumar SK, Dispenzieri A. Ten-year survivors in AL amyloidosis: characteristics and treatment pattern. Br J Haematol. 2019 Dec;187(5):588–594. doi: 10.1111/bjh.16096. https://europepmc.org/abstract/MED/31298751 - DOI - PMC - PubMed