LLM-supported self-diagnosis and self-treatment of familial Mediterranean fever: a case report
Large language models (LLMs) are increasingly being used by patients to seek explanations for persistent or unexplained symptoms. However, their impact on real-world diagnostic pathways and patient behavior remains poorly understood. We report the case of a 34-year-old male of Egyptian origin with recurrent episodes of fever, severe migratory abdominal pain, arthralgia, myalgia, and intermittent erythematous skin lesions since early childhood. Despite almost 3 decades of extensive investigations, no unifying dia…
After about three decades without a unifying diagnosis, a patient's iterative dialogue with DeepSeek narrowed the differential to familial Mediterranean fever, later confirmed by a specialist, and colchicine stopped his inflammatory attacks.
The same chatbot exchange, with confident diagnostic language and actionable treatment information, was followed by independent genetic testing and colchicine self-treatment without specialist review, and liver enzymes rose.
Evidence
- Peer-reviewedEULAR Rheumatology Open2026-09-29
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Truvace Impact Record TRV-2026-1505, v1: “LLM-supported self-diagnosis and self-treatment of familial Mediterranean fever: a case report.” Truvace, 2026-10-15. /record/TRV-2026-1505 (accessed at citation time). sha256 352eefcbbade7007…
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