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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Main Authors: | , , , , |
Format: | Journal Article |
Language: | English |
Published: |
Hospital Universitário da Universidade de São Paulo
2021
University of São Paulo |
Subjects: | |
Online Access: | Get full text |
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Summary: | 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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Bibliography: | 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. |
ISSN: | 2236-1960 2236-1960 |
DOI: | 10.4322/acr.2021.326 |