Cargando…

Two types of amyloidosis presenting in a single patient: a case series

The amyloidoses are a group of disorders with overlapping clinical presentations, characterized by aggregation and tissue deposition of misfolded proteins. The nature and source of the amyloidogenic protein determines therapy, therefore correct subtyping is critical to patient management. We report...

Descripción completa

Detalles Bibliográficos
Autores principales: Sidiqi, M. Hasib, McPhail, Ellen D., Theis, Jason D., Dasari, Surendra, Vrana, Julie A., Drosou, Maria Eleni, Leung, Nelson, Hayman, Suzanne, Rajkumar, S. Vincent, Warsame, Rahma, Ansell, Stephen M., Gertz, Morie A., Grogan, Martha, Dispenzieri, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6401104/
https://www.ncbi.nlm.nih.gov/pubmed/30837451
http://dx.doi.org/10.1038/s41408-019-0193-9
_version_ 1783400091162247168
author Sidiqi, M. Hasib
McPhail, Ellen D.
Theis, Jason D.
Dasari, Surendra
Vrana, Julie A.
Drosou, Maria Eleni
Leung, Nelson
Hayman, Suzanne
Rajkumar, S. Vincent
Warsame, Rahma
Ansell, Stephen M.
Gertz, Morie A.
Grogan, Martha
Dispenzieri, Angela
author_facet Sidiqi, M. Hasib
McPhail, Ellen D.
Theis, Jason D.
Dasari, Surendra
Vrana, Julie A.
Drosou, Maria Eleni
Leung, Nelson
Hayman, Suzanne
Rajkumar, S. Vincent
Warsame, Rahma
Ansell, Stephen M.
Gertz, Morie A.
Grogan, Martha
Dispenzieri, Angela
author_sort Sidiqi, M. Hasib
collection PubMed
description The amyloidoses are a group of disorders with overlapping clinical presentations, characterized by aggregation and tissue deposition of misfolded proteins. The nature and source of the amyloidogenic protein determines therapy, therefore correct subtyping is critical to patient management. We report the clinicopathologic features of nine patients diagnosed with two amyloid types confirmed by liquid chromatography-coupled tandem mass spectrometry. The most common types were transthyrethin (n = 9) and immunoglobulin-derived (n = 7). Two patients did not have immunoglobulin-derived amyloidosis despite the presence of a monoclonal gammopathy. Eight patients were diagnosed with two types concurrently, and one patient had an 11-year interval between diagnoses. Histopathological distribution of amyloid was variable with vascular, interstitial, and periosteal deposits seen. Identification of a second type was incidental in seven patients, but led to genetic counselling in one patient and therapy directed at both amyloid subtypes in another. With longer survival of myeloma and AL amyloidosis patients and increasing prevalence of patients with wild-type transthyretin amyloidosis due to an aging population, the phenomenon of two amyloid types in a single patient will be encountered more frequently. In light of revolutionary new therapies for transthyretin amyloidosis (patisiran, tafamidis, and inotersen), recognition of dual amyloid types is highly clinically relevant.
format Online
Article
Text
id pubmed-6401104
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-64011042019-03-06 Two types of amyloidosis presenting in a single patient: a case series Sidiqi, M. Hasib McPhail, Ellen D. Theis, Jason D. Dasari, Surendra Vrana, Julie A. Drosou, Maria Eleni Leung, Nelson Hayman, Suzanne Rajkumar, S. Vincent Warsame, Rahma Ansell, Stephen M. Gertz, Morie A. Grogan, Martha Dispenzieri, Angela Blood Cancer J Article The amyloidoses are a group of disorders with overlapping clinical presentations, characterized by aggregation and tissue deposition of misfolded proteins. The nature and source of the amyloidogenic protein determines therapy, therefore correct subtyping is critical to patient management. We report the clinicopathologic features of nine patients diagnosed with two amyloid types confirmed by liquid chromatography-coupled tandem mass spectrometry. The most common types were transthyrethin (n = 9) and immunoglobulin-derived (n = 7). Two patients did not have immunoglobulin-derived amyloidosis despite the presence of a monoclonal gammopathy. Eight patients were diagnosed with two types concurrently, and one patient had an 11-year interval between diagnoses. Histopathological distribution of amyloid was variable with vascular, interstitial, and periosteal deposits seen. Identification of a second type was incidental in seven patients, but led to genetic counselling in one patient and therapy directed at both amyloid subtypes in another. With longer survival of myeloma and AL amyloidosis patients and increasing prevalence of patients with wild-type transthyretin amyloidosis due to an aging population, the phenomenon of two amyloid types in a single patient will be encountered more frequently. In light of revolutionary new therapies for transthyretin amyloidosis (patisiran, tafamidis, and inotersen), recognition of dual amyloid types is highly clinically relevant. Nature Publishing Group UK 2019-03-05 /pmc/articles/PMC6401104/ /pubmed/30837451 http://dx.doi.org/10.1038/s41408-019-0193-9 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Sidiqi, M. Hasib
McPhail, Ellen D.
Theis, Jason D.
Dasari, Surendra
Vrana, Julie A.
Drosou, Maria Eleni
Leung, Nelson
Hayman, Suzanne
Rajkumar, S. Vincent
Warsame, Rahma
Ansell, Stephen M.
Gertz, Morie A.
Grogan, Martha
Dispenzieri, Angela
Two types of amyloidosis presenting in a single patient: a case series
title Two types of amyloidosis presenting in a single patient: a case series
title_full Two types of amyloidosis presenting in a single patient: a case series
title_fullStr Two types of amyloidosis presenting in a single patient: a case series
title_full_unstemmed Two types of amyloidosis presenting in a single patient: a case series
title_short Two types of amyloidosis presenting in a single patient: a case series
title_sort two types of amyloidosis presenting in a single patient: a case series
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6401104/
https://www.ncbi.nlm.nih.gov/pubmed/30837451
http://dx.doi.org/10.1038/s41408-019-0193-9
work_keys_str_mv AT sidiqimhasib twotypesofamyloidosispresentinginasinglepatientacaseseries
AT mcphailellend twotypesofamyloidosispresentinginasinglepatientacaseseries
AT theisjasond twotypesofamyloidosispresentinginasinglepatientacaseseries
AT dasarisurendra twotypesofamyloidosispresentinginasinglepatientacaseseries
AT vranajuliea twotypesofamyloidosispresentinginasinglepatientacaseseries
AT drosoumariaeleni twotypesofamyloidosispresentinginasinglepatientacaseseries
AT leungnelson twotypesofamyloidosispresentinginasinglepatientacaseseries
AT haymansuzanne twotypesofamyloidosispresentinginasinglepatientacaseseries
AT rajkumarsvincent twotypesofamyloidosispresentinginasinglepatientacaseseries
AT warsamerahma twotypesofamyloidosispresentinginasinglepatientacaseseries
AT ansellstephenm twotypesofamyloidosispresentinginasinglepatientacaseseries
AT gertzmoriea twotypesofamyloidosispresentinginasinglepatientacaseseries
AT groganmartha twotypesofamyloidosispresentinginasinglepatientacaseseries
AT dispenzieriangela twotypesofamyloidosispresentinginasinglepatientacaseseries