Rationale: This article presents the case of a patient with recurrent chronic diarrhea and cachexia who was misdiagnosed, followed by a literature review to summarize the reasons for misdiagnosis of POEMS syndrome and the treatment strategies.
Patient Concerns: The diagnosis and treatment of this patient suggest that with the improvement of M-protein detection levels, the diagnosis of patients with low M-protein levels, such as those with POEMS syndrome, has been greatly aided.
Diagnoses: POEMS syndrome requires polyneuropathy and monoclonal plasma cell proliferation as mandatory diagnostic criteria. Therefore, patients presenting with polyneuropathy should routinely undergo M-protein testing and consider the possibility of POEMS syndrome.
Interventions: The patient, in this case, was treated primarily with relatively conservative immunomodulatory agents.
Outcomes: During follow-up after treatment, the patient's diarrhea and malnutrition showed significant improvement.
Lessons Subsections: POEMS syndrome has low clinical specificity and a high rate of misdiagnosis. However, once a definitive diagnosis is made, the treatment outcome is favorable.
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http://dx.doi.org/10.1097/MD.0000000000037200 | DOI Listing |
J Am Med Inform Assoc
January 2025
Kennewick, WA 99338, United States.
Objective: This study evaluates the utility of word embeddings, generated by large language models (LLMs), for medical diagnosis by comparing the semantic proximity of symptoms to their eponymic disease embedding ("eponymic condition") and the mean of all symptom embeddings associated with a disease ("ensemble mean").
Materials And Methods: Symptom data for 5 diagnostically challenging pediatric diseases-CHARGE syndrome, Cowden disease, POEMS syndrome, Rheumatic fever, and Tuberous sclerosis-were collected from PubMed. Using the Ada-002 embedding model, disease names and symptoms were translated into vector representations in a high-dimensional space.
Front Med (Lausanne)
December 2024
Department of Hematology, Xuanwu Hospital, Capital Medical University, Beijing, China.
POEMS syndrome is a complex and rare hematological disease involving multiple physiological systems. According to the currently accepted diagnostic criteria for POEMS syndrome, polyneuropathy is one of the primary mandatory criteria. A patient presented with M protein, Castleman disease (CD), elevated vascular endothelial growth factor (VEGF), extravascular volume overload, and endocrinopathy.
View Article and Find Full Text PDFBMC Nephrol
December 2024
Department of Nephrology, Peking University Shenzhen Hospital, Shenzhen, Guangdong Province, 518000, China.
Background: POEMS syndrome with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes is an uncommon plasma cell paraneoplastic syndrome involving multiple system. It is relatively rare in clinical practice, and renal involvement is a usual yet easily overlooked symptom.
Case Presentation: We successfully treated a patient with M protein-negative POEMS syndrome with membranoproliferative glomerulonephritis (MPGN) findings and thrombotic microangiopathic changes by comparing the level of Vascular endothelial growth factor (VEGF) in the serum and the changes in polyserositis before and after the patient's treatment.
Front Oncol
December 2024
Department of Hematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes) syndrome is a paraneoplastic syndrome associated with an underlying plasma cell neoplasm. According to the current diagnostic criteria for POEMS syndrome, the presence of characteristic polyneuropathy and clonal plasma cell disorder are required for diagnosis. We report a case of a Castleman disease variant of POEMS syndrome without monoclonal protein (M protein) expression, which presented with polyneuropathy, organomegaly, endocrinopathy, skin lesions, and sclerotic bone lesions.
View Article and Find Full Text PDFLeuk Res Rep
November 2024
Hematology, Department of Translational and Precision Medicine, Sapienza University of Rome, Azienda Policlinico Umberto I, Rome, Italy.
POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome) is a rare condition due to an underlying plasma cell neoplasm whose clinical presentation can be various so it could lead to delayed diagnosis and treatment. The pathogenesis of the syndrome is not well understood, and its therapy is adapted from other plasma cell disorders with the aim of alleviating symptoms, decreasing end-organ damage, improving quality of life and prolonging overall survival. We report a case of a 71 years-old woman who has been treated with continuous DRd (daratumumab, lenalidomide and dexamethasone) scheme.
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