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...

Full description

Saved in:

Bibliographic Details
Published in:	Autopsy & case reports Vol. 11; p. e2021326
Main Authors:	Lino, Angelina Maria Martins, Castelli, Jussara Bianchi, Szor, Roberta Shcolnik, Fernandes, Fabio, Aiello, Vera Demarchi
Format:	Journal Article
Language:	English
Published:	Hospital Universitário da Universidade de São Paulo 2021 University of São Paulo
Subjects:	Amyloidosis ANATOMY & MORPHOLOGY Chronic Inflammatory Demyelinating Clinical Case Report Diagnostic Errors Familial Light Chain Immunoglobulin Amyloidosis PATHOLOGY Polyradiculoneuropathy Light Chain Immunoglobulin Amyloidosis Paraproteinemias Polyradiculoneuropathy, Chronic Inflammatory Demyelinating Diagnostic Errors Amyloidosis, Familial
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
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.
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