{ "id": "AIBD-0061", "title": "DeepSeek-R1 dialogue leads a 34-year-old man to a genetically confirmed familial Mediterranean fever diagnosis after roughly three decades of symptoms", "summary": "Patient's DeepSeek-R1 dialogue proposed FMF; MEFV genetic testing confirmed it and colchicine stopped attacks after ~30 years of symptoms.", "date_observed": "2025-06-28", "date_basis": "unassessed", "date_precision": "unassessed", "benefit_status": null, "source_collection": null, "source_entry": null, "account": "A 34-year-old man of Egyptian origin began a dialogue with the DeepSeek-R1-0528 model on 28 June 2025. He had recurrent fever, migratory abdominal pain, arthralgia, myalgia and erythematous skin lesions since early childhood. The model refined its differential toward familial Mediterranean fever (FMF). It recommended specialist evaluation, inflammatory markers, genetic testing and colchicine under supervision. He arranged genetic testing, which found two pathogenic MEFV variants (p.Met694Val and p.Val726Ala). He obtained colchicine 0.5 mg twice daily from an Egyptian pharmacy. His attacks ceased, but alanine aminotransferase rose to 160 U/L. Colchicine was temporarily discontinued. His liver enzymes were monitored by his primary care physician. After they improved it was resumed at 0.5 mg daily under close supervision. He presented to the Department of Medicine III, University Medical Center Hamburg-Eppendorf, Germany, in February 2026, already taking 0.5 mg daily. The clinic confirmed FMF and he has remained attack-free.", "category": "benefit created", "unexpected": false, "purpose": "DeepSeek-R1 is a general-purpose reasoning chatbot. Answering a user's medical questions with a differential diagnosis falls within its general question-answering function. It is not a validated medical device.", "system": "DeepSeek-R1", "model_version": "DeepSeek-R1-0528", "developer": "DeepSeek", "deployer": null, "location": "Hamburg, Germany", "domain": "Healthcare - rheumatology / autoinflammatory disease", "segment": "Patient-initiated use of a consumer LLM", "benefit_type": "Improved Physical Health", "taxonomy_note": null, "registry_ids": {}, "ratings": [ { "group": "personal", "depth": 3, "reason": "Inflammatory attacks that had recurred since early childhood ceased on colchicine after a genetically confirmed diagnosis. The benefit is life-changing, tempered by a documented transaminase rise from self-dosing before medical supervision." } ], "ai_role": { "status": "assessed", "statement": "The large language model (LLM) generated the FMF hypothesis and the suggested work-up over a multi-turn dialogue. Confirmation came from MEFV genotyping and clinical response to colchicine. The authors stress that the model repeatedly advised specialist supervision. The self-directed genetic testing and self-medication were the patient's own actions." }, "evidence": [ { "kind": "case report", "citation": "Pauz J, Kremer P, Xiong T, Krusche M (2026). LLM-supported self-diagnosis and self-treatment of familial Mediterranean fever: a case report. EULAR Rheumatology Open 2(4):100244.", "title": "LLM-supported self-diagnosis and self-treatment of familial Mediterranean fever: a case report", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/", "date": "2026-09-29", "written_by": "independent", "quote": "The patient nevertheless translated the generated diagnostic hypothesis into autonomous genetic testing and self-medication." }, { "kind": "case report", "citation": "Pauz J, Kremer P, Xiong T, Krusche M (2026). EULAR Rheumatology Open 2(4):100244 (second quotation).", "title": "LLM-supported self-diagnosis and self-treatment of familial Mediterranean fever: a case report", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/", "date": "2026-09-29", "written_by": "independent", "quote": "The model did not simply produce a correct diagnosis from a static symptom list but continuously refined its differential diagnosis" } ], "replication": { "produced_by": [ "A patient with a long-standing, characteristic but undiagnosed phenotype describing it in detail to a reasoning LLM over multiple turns", "Access to genetic testing for the suspected condition" ], "must_hold": [ "Genetic or clinical confirmation by a specialist before the diagnosis is accepted", "Treatment initiated under medical supervision (the case documents hepatotoxicity from self-dosing)" ], "echoes": [] }, "paired_incident": { "database": "AI Incident Database", "identifier": "1609", "title": "ChatGPT-4o Allegedly Discouraged Florida Pastor From Seeking Care Before Pulmonary Embolism", "url": "https://incidentdatabase.ai/cite/1609", "severity": null, "group": "personal", "basis": "Same task, a consumer chatbot assessing a patient's own symptoms in dialogue: ChatGPT-4o attributed Scott Winters's dizziness and pain to benign causes and discouraged hospital care before a massive pulmonary embolism, the inverse of DeepSeek-R1's correct rare diagnosis." }, "headline": "DeepSeek-R1 proposes FMF; MEFV testing confirms the diagnosis", "metric": "colchicine stopped attacks after ~30 years of symptoms", "comparator": { "against": "almost three decades of conventional investigations", "before": "Despite almost 3 decades of symptoms, extensive investigations, including contrast-enhanced abdominal CT and MRI, gastroscopy, colonoscopy, and urological assessment, failed to establish a diagnosis.", "after": "the diagnosis of FMF was confirmed", "basis": "measured", "quote": "Despite almost 3 decades of symptoms, extensive investigations, including contrast-enhanced abdominal CT and MRI, gastroscopy, colonoscopy, and urological assessment, failed to establish a diagnosis.", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/" }, "later": { "status": "persisted", "date": "2026-09-29", "note": "After a colchicine pause for raised liver enzymes and resumption at a lower dose, the patient remained attack-free under clinic follow-up as of publication.", "quote": "The patient has remained free of attacks with regular clinical and laboratory follow-up.", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/" }, "value": null, "developer_country": "China", "deployer_country": null, "unrated_because": null, "brief_notes": null, "brief": null, "revisions": [ { "date": "2026-10-20", "change": "Record drafted from the cited sources.", "source": null, "editor": "AIBD" }, { "date": "2026-10-20", "change": "Paired with AI Incident Database incident 1609 (high confidence); severity not given by the source.", "source": "https://incidentdatabase.ai/cite/1609", "editor": "AIBD" }, { "date": "2026-10-20", "change": "Account corrected so that the colchicine pause after the ALT rise to 160 U/L and the resumption at 0.5 mg daily are placed before the February 2026 Hamburg presentation, monitored by the primary care physician, as the source states, and the stray “(day not given; first day used)” note was removed because the date observed is the exactly stated dialogue start date of 28 June 2025.", "source": "Pauz J, Kremer P, Xiong T, Krusche M (2026). EULAR Rheumatology Open 2(4):100244, https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Added what the benefit is measured against, what happened since from the cited sources.", "source": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/; https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Benefit type set to Improved Physical Health under Trustible's full taxonomy of 23 types; it was Improved Accessibility among the six first used.", "source": "https://trustible.ai/post/a-framework-for-measuring-the-benefits-of-ai/", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Country of the developer added from the organization's own site or a registry.", "source": "https://en.wikipedia.org/wiki/DeepSeek", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Prose pass: a rating reason, account, purpose, the system's part rewritten in shorter sentences with abbreviations expanded; facts, figures and quotations unchanged.", "source": null, "editor": "AIBD" } ], "confidence": "studied", "shade": "high", "claim_status": "Independently studied", "claim_basis": "Sources: one independent case report. The cited evidence includes no finding by a regulator or court.", "profile": { "case_id": "AIBD-0061", "catalog_version": "1.0.0", "source_fingerprint": "f7dee2b7bd11fcc94de8c213c28d421373f6f5d0a588ac396fac359dcb478eed", "collection_refs": [ { "collection_id": "aibd", "version": "snapshot-8bf7cfec9cb185aa" }, { "collection_id": "aibd", "version": "2026-10-25" }, { "collection_id": "viator", "version": "2026-10-25" } ], "source_ids": [ "AIBD-0061-source-0001", "AIBD-0061-source-0002" ], "families": { "strategic assessments": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial", "record_ids": [] }, "evaluations": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial", "record_ids": [] }, "monetary observations": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial", "record_ids": [] }, "institutional decisions": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial", "record_ids": [] } }, "fields": { "actors[]": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "developer": "DeepSeek" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "developer" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "actors[].ownership_control": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "ai_contribution": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "ai_role": { "status": "assessed", "statement": "The large language model (LLM) generated the FMF hypothesis and the suggested work-up over a multi-turn dialogue. 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ChatGPT-4o attributed Scott Winters's dizziness and pain to benign causes and discouraged hospital care before a massive pulmonary embolism, the inverse of DeepSeek-R1's correct rare diagnosis." } } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "paired_incident" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "follow_up[]": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "later": { "status": "persisted", "date": "2026-09-29", "note": "After a colchicine pause for raised liver enzymes and resumption at a lower dose, the patient remained attack-free under clinic follow-up as of publication.", "quote": "The patient has remained free of attacks with regular clinical and laboratory follow-up.", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/" } } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from 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"state": "value_present", "value": { "kind": "record_fields", "fields": { "benefit_type": "Improved Physical Health" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "benefit_type" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "outcomes[].claim": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "account": "A 34-year-old man of Egyptian origin began a dialogue with the DeepSeek-R1-0528 model on 28 June 2025. He had recurrent fever, migratory abdominal pain, arthralgia, myalgia and erythematous skin lesions since early childhood. The model refined its differential toward familial Mediterranean fever (FMF). It recommended specialist evaluation, inflammatory markers, genetic testing and colchicine under supervision. He arranged genetic testing, which found two pathogenic MEFV variants (p.Met694Val and p.Val726Ala). He obtained colchicine 0.5 mg twice daily from an Egyptian pharmacy. His attacks ceased, but alanine aminotransferase rose to 160 U/L. Colchicine was temporarily discontinued. His liver enzymes were monitored by his primary care physician. After they improved it was resumed at 0.5 mg daily under close supervision. He presented to the Department of Medicine III, University Medical Center Hamburg-Eppendorf, Germany, in February 2026, already taking 0.5 mg daily. The clinic confirmed FMF and he has remained attack-free.", "benefit_type": "Improved Physical Health" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "account", "benefit_type" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "outcomes[].distribution": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "outcomes[].duration": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "outcomes[].id": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "outcomes[].stakeholder_group": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "ratings": [ { "group": "personal", "depth": 3, "reason": "Inflammatory attacks that had recurred since early childhood ceased on colchicine after a genetically confirmed diagnosis. The benefit is life-changing, tempered by a documented transaminase rise from self-dosing before medical supervision." } ] } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "ratings" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "outcomes[].status": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "outcomes[].tradeoffs": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "outcomes[].unexpected": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "unexpected": false, "purpose": "DeepSeek-R1 is a general-purpose reasoning chatbot. Answering a user's medical questions with a differential diagnosis falls within its general question-answering function. It is not a validated medical device." } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "unexpected", "purpose" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "places[]": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "location": "Hamburg, Germany", "developer_country": "China" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "location", "developer_country" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "purpose": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "purpose": "DeepSeek-R1 is a general-purpose reasoning chatbot. Answering a user's medical questions with a differential diagnosis falls within its general question-answering function. 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EULAR Rheumatology Open 2(4):100244, https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Added what the benefit is measured against, what happened since from the cited sources.", "source": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/; https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Benefit type set to Improved Physical Health under Trustible's full taxonomy of 23 types; it was Improved Accessibility among the six first used.", "source": "https://trustible.ai/post/a-framework-for-measuring-the-benefits-of-ai/", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Country of the developer added from the organization's own site or a registry.", "source": "https://en.wikipedia.org/wiki/DeepSeek", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Prose pass: a rating reason, account, purpose, the system's part rewritten in shorter sentences with abbreviations expanded; facts, figures and quotations unchanged.", "editor": "AIBD" } ] } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "date_observed", "revisions" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "replication.attempts[]": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "replication.conditions": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "replication": { "produced_by": [ "A patient with a long-standing, characteristic but undiagnosed phenotype describing it in detail to a reasoning LLM over multiple turns", "Access to genetic testing for the suspected condition" ], "must_hold": [ "Genetic or clinical confirmation by a specialist before the diagnosis is accepted", "Treatment initiated under medical supervision (the case documents hepatotoxicity from self-dosing)" ], "echoes": [] } } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "replication" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "revision_history[]": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "revisions": [ { "date": "2026-10-20", "change": "Record drafted from the cited sources.", "editor": "AIBD" }, { "date": "2026-10-20", "change": "Paired with AI Incident Database incident 1609 (high confidence); severity not given by the source.", "source": "https://incidentdatabase.ai/cite/1609", "editor": "AIBD" }, { "date": "2026-10-20", "change": "Account corrected so that the colchicine pause after the ALT rise to 160 U/L and the resumption at 0.5 mg daily are placed before the February 2026 Hamburg presentation, monitored by the primary care physician, as the source states, and the stray “(day not given; first day used)” note was removed because the date observed is the exactly stated dialogue start date of 28 June 2025.", "source": "Pauz J, Kremer P, Xiong T, Krusche M (2026). EULAR Rheumatology Open 2(4):100244, https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Added what the benefit is measured against, what happened since from the cited sources.", "source": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/; https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Benefit type set to Improved Physical Health under Trustible's full taxonomy of 23 types; it was Improved Accessibility among the six first used.", "source": "https://trustible.ai/post/a-framework-for-measuring-the-benefits-of-ai/", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Country of the developer added from the organization's own site or a registry.", "source": "https://en.wikipedia.org/wiki/DeepSeek", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Prose pass: a rating reason, account, purpose, the system's part rewritten in shorter sentences with abbreviations expanded; facts, figures and quotations unchanged.", "editor": "AIBD" } ] } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "revisions" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "sector": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "domain": "Healthcare - rheumatology / autoinflammatory disease", "segment": "Patient-initiated use of a consumer LLM" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "domain", "segment" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "sources[].access_version": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "sources[].citation_locator": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "evidence": [ { "kind": "case report", "citation": "Pauz J, Kremer P, Xiong T, Krusche M (2026). LLM-supported self-diagnosis and self-treatment of familial Mediterranean fever: a case report. EULAR Rheumatology Open 2(4):100244.", "title": "LLM-supported self-diagnosis and self-treatment of familial Mediterranean fever: a case report", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/", "date": "2026-09-29", "written_by": "independent", "quote": "The patient nevertheless translated the generated diagnostic hypothesis into autonomous genetic testing and self-medication." }, { "kind": "case report", "citation": "Pauz J, Kremer P, Xiong T, Krusche M (2026). EULAR Rheumatology Open 2(4):100244 (second quotation).", "title": "LLM-supported self-diagnosis and self-treatment of familial Mediterranean fever: a case report", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/", "date": "2026-09-29", "written_by": "independent", "quote": "The model did not simply produce a correct diagnosis from a static symptom list but continuously refined its differential diagnosis" } ] } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "evidence" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "sources[].id": { "state": "value_present", "value": { "kind": "identifiers", "identifiers": [ "AIBD-0061-source-0001", "AIBD-0061-source-0002" ], "role": "Existing evidence items, in their original order" }, "provenance": { "kind": "curatorial", "basis": "Stable within the fingerprinted record version; no source content or source review has been added.", "record_fields": [], "source_refs": [] }, "review_state": "record_mapped", "coverage": "complete" }, "sources[].language": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "sources[].relationship": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "evidence": [ { "kind": "case report", "citation": "Pauz J, Kremer P, Xiong T, Krusche M (2026). LLM-supported self-diagnosis and self-treatment of familial Mediterranean fever: a case report. EULAR Rheumatology Open 2(4):100244.", "title": "LLM-supported self-diagnosis and self-treatment of familial Mediterranean fever: a case report", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/", "date": "2026-09-29", "written_by": "independent", "quote": "The patient nevertheless translated the generated diagnostic hypothesis into autonomous genetic testing and self-medication." }, { "kind": "case report", "citation": "Pauz J, Kremer P, Xiong T, Krusche M (2026). EULAR Rheumatology Open 2(4):100244 (second quotation).", "title": "LLM-supported self-diagnosis and self-treatment of familial Mediterranean fever: a case report", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13651492/", "date": "2026-09-29", "written_by": "independent", "quote": "The model did not simply produce a correct diagnosis from a static symptom list but continuously refined its differential diagnosis" } ] } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "evidence" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "sources[].upstream_sources": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "strategic_assessments[]": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial", "family": "strategic assessments" }, "summary": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "summary": "Patient's DeepSeek-R1 dialogue proposed FMF; MEFV genetic testing confirmed it and colchicine stopped attacks after ~30 years of symptoms.", "account": "A 34-year-old man of Egyptian origin began a dialogue with the DeepSeek-R1-0528 model on 28 June 2025. He had recurrent fever, migratory abdominal pain, arthralgia, myalgia and erythematous skin lesions since early childhood. The model refined its differential toward familial Mediterranean fever (FMF). It recommended specialist evaluation, inflammatory markers, genetic testing and colchicine under supervision. He arranged genetic testing, which found two pathogenic MEFV variants (p.Met694Val and p.Val726Ala). He obtained colchicine 0.5 mg twice daily from an Egyptian pharmacy. His attacks ceased, but alanine aminotransferase rose to 160 U/L. Colchicine was temporarily discontinued. His liver enzymes were monitored by his primary care physician. After they improved it was resumed at 0.5 mg daily under close supervision. He presented to the Department of Medicine III, University Medical Center Hamburg-Eppendorf, Germany, in February 2026, already taking 0.5 mg daily. The clinic confirmed FMF and he has remained attack-free." } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "summary", "account" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "systems[].autonomy_permissions": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "systems[].component_role": { "state": "value_present", "value": { "kind": "text", "text": "The model suggested a possible diagnosis and further investigations during a conversation." }, "provenance": { "kind": "legacy_record", "basis": "Restated the mechanical task already described in the existing system and AI-role fields. No new source review is claimed.", "record_fields": [ "system", "ai_role" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "systems[].deployment_configuration": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "systems[].inputs_outputs": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "systems[].model_name": { "state": "value_present", "value": { "kind": "text", "text": "DeepSeek-R1-0528." }, "provenance": { "kind": "legacy_record", "basis": "Separated the model, software, hardware, or operation already described in the existing record. No new source review is claimed.", "record_fields": [ "model_version", "system", "ai_role" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "systems[].model_version": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "model_version": "DeepSeek-R1-0528" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "model_version" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial", "display": { "answer": "DeepSeek-R1-0528.", "editor_note": "" } }, "systems[].product_name": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "system": "DeepSeek-R1" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "system" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "systems[].provider": { "state": "value_present", "value": { "kind": "structured", "data": { "application_developer": "DeepSeek" } }, "provenance": { "kind": "legacy_record", "basis": "Mapped from the existing case description without a new external source review.", "record_fields": [ "developer" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "taxonomy_crosswalks[]": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "title": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "title": "DeepSeek-R1 dialogue leads a 34-year-old man to a genetically confirmed familial Mediterranean fever diagnosis after roughly three decades of symptoms", "headline": "DeepSeek-R1 proposes FMF; MEFV testing confirms the diagnosis" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "title", "headline" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "version": { "state": "value_present", "value": { "kind": "identifiers", "identifiers": [ "f7dee2b7bd11fcc94de8c213c28d421373f6f5d0a588ac396fac359dcb478eed" ], "role": "SHA-256 of normalized original case data" }, "provenance": { "kind": "curatorial", "basis": "Deterministic content version assigned by the local migration.", "record_fields": [], "source_refs": [] }, "review_state": "record_mapped", "coverage": "complete" }, "workflow": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "account": "A 34-year-old man of Egyptian origin began a dialogue with the DeepSeek-R1-0528 model on 28 June 2025. He had recurrent fever, migratory abdominal pain, arthralgia, myalgia and erythematous skin lesions since early childhood. The model refined its differential toward familial Mediterranean fever (FMF). It recommended specialist evaluation, inflammatory markers, genetic testing and colchicine under supervision. He arranged genetic testing, which found two pathogenic MEFV variants (p.Met694Val and p.Val726Ala). He obtained colchicine 0.5 mg twice daily from an Egyptian pharmacy. His attacks ceased, but alanine aminotransferase rose to 160 U/L. Colchicine was temporarily discontinued. His liver enzymes were monitored by his primary care physician. After they improved it was resumed at 0.5 mg daily under close supervision. He presented to the Department of Medicine III, University Medical Center Hamburg-Eppendorf, Germany, in February 2026, already taking 0.5 mg daily. The clinic confirmed FMF and he has remained attack-free.", "replication": { "produced_by": [ "A patient with a long-standing, characteristic but undiagnosed phenotype describing it in detail to a reasoning LLM over multiple turns", "Access to genetic testing for the suspected condition" ], "must_hold": [ "Genetic or clinical confirmation by a specialist before the diagnosis is accepted", "Treatment initiated under medical supervision (the case documents hepatotoxicity from self-dosing)" ], "echoes": [] } } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "account", "replication" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" } }, "summary": { "total": 91, "addressed": 91, "known": 33, "reviewed": 0, "record_mapped": 33, "not_assessed": 58, "complete": false, "by_state": { "value_present": 33, "not_reported": 0, "unresolved": 0, "not_assessed": 58, "not_applicable": 0, "withheld": 0, "source_unavailable": 0 } } } }