Evidence map›Paper›PMID 42368386›Full record

ArticleEULAR rheumatology open2025

Comparative analysis of large language models and traditional diagnostic decision support systems for rare rheumatic disease identification.

Phillip Kremer, Hannes Schiebisch, Fabian Lechner, Isabell Haase, Lasse Cirkel, Ina Kötter, Sebastian Kuhn, Martin Krusche, Johannes Knitza

Abstract read
In one paragraph

Article in EULAR rheumatology open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed.

  1. Trial
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  4. Observational
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  6. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Phillip KremerDivision of Rheumatology and Systemic Inflammatory Diseases, III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Hannes SchiebischPhilipps-University Marburg, Marburg, Germany.
Fabian LechnerInstitute for Digital Medicine, University Hospital Marburg, Philipps-University Marburg, Marburg, Germany.
Isabell HaaseDivision of Rheumatology and Systemic Inflammatory Diseases, III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Lasse CirkelInstitute for Digital Medicine, University Hospital Marburg, Philipps-University Marburg, Marburg, Germany.
Ina KötterDivision of Rheumatology and Systemic Inflammatory Diseases, III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Sebastian KuhnInstitute for Digital Medicine, University Hospital Marburg, Philipps-University Marburg, Marburg, Germany.
Martin KruscheDivision of Rheumatology and Systemic Inflammatory Diseases, III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Johannes KnitzaInstitute for Digital Medicine, University Hospital Marburg, Philipps-University Marburg, Marburg, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Rare rheumatic diseases are challenging to diagnose due to their complex and often atypical presentations. This study compared traditional diagnostic decision support systems (DDSSs) and large language models (LLMs) for rare rheumatic disease identification. Methods: Comparison was based on 60 rare disease vignettes. Four general-purpose LLMs (Claude 3.5 Sonnet, ChatGPT-4o, Gemini 1.5 Pro, and Llama 3.3) and 3 traditional DDSSs (Symptoma, Ada, and Isabel DDx) were used to generate up to 5 disease suggestions per vignette based on anamnestic information. Identical diagnoses were scored with 2 points and plausible diagnoses with 1 point, contributing to a diagnostic score. Case completion time for each vignette was measured, and proportion of identical or plausible diagnoses were calculated. Results: Overall diagnostic accuracy varied widely, with LLMs outperforming DDSSs. LLMs proposed an identical top diagnosis approximately 4 times more often than DDSSs (35.0% vs 8.9%; Conclusions: General-purpose LLMs outperformed the traditional DDSSs evaluated in this study, including both free and subscription-based medical products, in diagnostic accuracy and efficiency. Notably, open-source, locally hosted LLMs demonstrated promising performance, highlighting the potential of secure, on-premises LLMs for diagnostic decision support.

Identifiers

PMID42368386
PMCPMC13292275

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.