Diagnostic challenges in systemic amyloidosis: a case report with clinical and laboratorial pitfalls
Currently, there is growing evidence in the literature warning of misdiagnosis involving amyloidosis and chronic inflammatory demyelinating polyneuropathy (CIDP). Although inducing clinical manifestations outside the peripheral nervous system, light chain and transthyretin amyloidosis may initially...
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| Published in: | Autopsy & case reports Vol. 11; p. e2021326 |
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| Language: | English |
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Hospital Universitário da Universidade de São Paulo
2021
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| Abstract | Currently, there is growing evidence in the literature warning of misdiagnosis involving amyloidosis and chronic inflammatory demyelinating polyneuropathy (CIDP). Although inducing clinical manifestations outside the peripheral nervous system, light chain and transthyretin amyloidosis may initially present with peripheral neuropathy, which can be indistinguishable from CIDP, leading to a delay in the correct diagnosis. Besides, the precise identification of the amyloid subtype is often challenging. This case report exemplifies clinical and laboratory pitfalls in diagnosing amyloidosis and subtyping amyloid, exposing the patient to potentially harmful procedures. |
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| AbstractList | Currently, there is growing evidence in the literature warning of misdiagnosis involving amyloidosis and chronic inflammatory demyelinating polyneuropathy (CIDP). Although inducing clinical manifestations outside the peripheral nervous system, light chain and transthyretin amyloidosis may initially present with peripheral neuropathy, which can be indistinguishable from CIDP, leading to a delay in the correct diagnosis. Besides, the precise identification of the amyloid subtype is often challenging. This case report exemplifies clinical and laboratory pitfalls in diagnosing amyloidosis and subtyping amyloid, exposing the patient to potentially harmful procedures. Currently, there is growing evidence in the literature warning of misdiagnosis involving amyloidosis and chronic inflammatory demyelinating polyneuropathy (CIDP). Although inducing clinical manifestations outside the peripheral nervous system, light chain and transthyretin amyloidosis may initially present with peripheral neuropathy, which can be indistinguishable from CIDP, leading to a delay in the correct diagnosis. Besides, the precise identification of the amyloid subtype is often challenging. This case report exemplifies clinical and laboratory pitfalls in diagnosing amyloidosis and subtyping amyloid, exposing the patient to potentially harmful procedures ABSTRACT Currently, there is growing evidence in the literature warning of misdiagnosis involving amyloidosis and chronic inflammatory demyelinating polyneuropathy (CIDP). Although inducing clinical manifestations outside the peripheral nervous system, light chain and transthyretin amyloidosis may initially present with peripheral neuropathy, which can be indistinguishable from CIDP, leading to a delay in the correct diagnosis. Besides, the precise identification of the amyloid subtype is often challenging. This case report exemplifies clinical and laboratory pitfalls in diagnosing amyloidosis and subtyping amyloid, exposing the patient to potentially harmful procedures. |
| Author | Lino, Angelina Maria Martins Szor, Roberta Shcolnik Fernandes, Fabio Aiello, Vera Demarchi Castelli, Jussara Bianchi |
| AuthorAffiliation | Grupo Fleury Universidade de São Paulo |
| AuthorAffiliation_xml | – name: Universidade de São Paulo – name: Grupo Fleury |
| Author_xml | – sequence: 1 givenname: Angelina Maria Martins surname: Lino fullname: Lino, Angelina Maria Martins – sequence: 2 givenname: Jussara Bianchi surname: Castelli fullname: Castelli, Jussara Bianchi – sequence: 3 givenname: Roberta Shcolnik surname: Szor fullname: Szor, Roberta Shcolnik – sequence: 4 givenname: Fabio surname: Fernandes fullname: Fernandes, Fabio – sequence: 5 givenname: Vera Demarchi surname: Aiello fullname: Aiello, Vera Demarchi |
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| ContentType | Journal Article |
| Copyright | Copyright © 2021 The Author(s). 2021 The Author(s). This work is licensed under a Creative Commons Attribution 4.0 International License. |
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| DOI | 10.4322/acr.2021.326 |
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| Keywords | Light Chain Immunoglobulin Amyloidosis Paraproteinemias Polyradiculoneuropathy, Chronic Inflammatory Demyelinating Diagnostic Errors Amyloidosis, Familial |
| Language | English |
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| Notes | Authors’ contributions: Angelina Maria Martins Lino reviewed the medical records and carried out the nerve microscopic analysis with heavy and light chains immunohistochemistry analysis and semithin sections. Jussara Bianchi Castelli and Vera Demarchi Aiello carried out the immunohistochemistry analysis for TTR. Jussara Bianchi Castelli and Roberta Shcolnik Szor carried out the laser dissection and mass spectroscopic analysis. Fabio Fernandes performed the cardiac evaluation. All authors wright, reviewed and approved the manuscript. Conflict of interest: Angelina Maria Martins Lino declares speaking fees and funding for scientific meeting expenses (travel, accommodation and registration) from Pfizer Inc and Sanofi/Genzime and speaking fee from Alnylam Pharmaceuticals. Roberta Shcolnik Szor declares speaking fees from Pfizer Inc, and speaking fees and financial support for research from Jansen-Cilag Farmacêutica Ltda. The remaining authors have no conflict of interest to declare. |
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| Publisher | Hospital Universitário da Universidade de São Paulo University of São Paulo |
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| SubjectTerms | Amyloidosis ANATOMY & MORPHOLOGY Chronic Inflammatory Demyelinating Clinical Case Report Diagnostic Errors Familial Light Chain Immunoglobulin Amyloidosis PATHOLOGY Polyradiculoneuropathy |
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| Title | Diagnostic challenges in systemic amyloidosis: a case report with clinical and laboratorial pitfalls |
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