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Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review

Our aim was to describe the main features of amyloid goiter in adults with amyloidosis secondary to familial Mediterranean fever. Therefore, we analyzed cases from a French cohort of familial Mediterranean fever patients with amyloidosis and from literature review. Forty-two cases were identified: 9...

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Autores principales: Vergneault, Hélène, Terré, Alexandre, Buob, David, Buffet, Camille, Dumont, Anael, Ardois, Samuel, Savey, Léa, Pardon, Agathe, Michel, Pierre-Antoine, Boffa, Jean-Jacques, Grateau, Gilles, Georgin-Lavialle, Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8125620/
https://www.ncbi.nlm.nih.gov/pubmed/34063105
http://dx.doi.org/10.3390/jcm10091983
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author Vergneault, Hélène
Terré, Alexandre
Buob, David
Buffet, Camille
Dumont, Anael
Ardois, Samuel
Savey, Léa
Pardon, Agathe
Michel, Pierre-Antoine
Boffa, Jean-Jacques
Grateau, Gilles
Georgin-Lavialle, Sophie
author_facet Vergneault, Hélène
Terré, Alexandre
Buob, David
Buffet, Camille
Dumont, Anael
Ardois, Samuel
Savey, Léa
Pardon, Agathe
Michel, Pierre-Antoine
Boffa, Jean-Jacques
Grateau, Gilles
Georgin-Lavialle, Sophie
author_sort Vergneault, Hélène
collection PubMed
description Our aim was to describe the main features of amyloid goiter in adults with amyloidosis secondary to familial Mediterranean fever. Therefore, we analyzed cases from a French cohort of familial Mediterranean fever patients with amyloidosis and from literature review. Forty-two cases were identified: 9 from the French cohort and 33 from literature review. Ninety percent of patients were on hemodialysis for renal amyloidosis before the development of goiter. The goiter grew up rapidly in 88% of cases; 75.6% of patients were euthyroid, 58% displayed dyspnea, and 44.8% dysphagia. Various features were seen on ultrasound, from diffuse to multinodular goiter. When it was performed, fine-needle aspiration biopsy almost always revealed amyloidosis. Thirty-one patients underwent thyroidectomy: to manage compressive symptoms (72%) or rule out malignancy (27%). Histology showed mature adipose tissue in 64% of cases and lymphocytic infiltration in 21.4%. In conclusion, amyloid goiter in familial Mediterranean fever preferentially occurs in patients with end stage renal failure. Fine-needle aspiration biopsy seems to be a sensitive exam for diagnosis, but thyroidectomy remains sometimes necessary to rule out malignancy or release compressive symptoms.
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spelling pubmed-81256202021-05-17 Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review Vergneault, Hélène Terré, Alexandre Buob, David Buffet, Camille Dumont, Anael Ardois, Samuel Savey, Léa Pardon, Agathe Michel, Pierre-Antoine Boffa, Jean-Jacques Grateau, Gilles Georgin-Lavialle, Sophie J Clin Med Article Our aim was to describe the main features of amyloid goiter in adults with amyloidosis secondary to familial Mediterranean fever. Therefore, we analyzed cases from a French cohort of familial Mediterranean fever patients with amyloidosis and from literature review. Forty-two cases were identified: 9 from the French cohort and 33 from literature review. Ninety percent of patients were on hemodialysis for renal amyloidosis before the development of goiter. The goiter grew up rapidly in 88% of cases; 75.6% of patients were euthyroid, 58% displayed dyspnea, and 44.8% dysphagia. Various features were seen on ultrasound, from diffuse to multinodular goiter. When it was performed, fine-needle aspiration biopsy almost always revealed amyloidosis. Thirty-one patients underwent thyroidectomy: to manage compressive symptoms (72%) or rule out malignancy (27%). Histology showed mature adipose tissue in 64% of cases and lymphocytic infiltration in 21.4%. In conclusion, amyloid goiter in familial Mediterranean fever preferentially occurs in patients with end stage renal failure. Fine-needle aspiration biopsy seems to be a sensitive exam for diagnosis, but thyroidectomy remains sometimes necessary to rule out malignancy or release compressive symptoms. MDPI 2021-05-05 /pmc/articles/PMC8125620/ /pubmed/34063105 http://dx.doi.org/10.3390/jcm10091983 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Vergneault, Hélène
Terré, Alexandre
Buob, David
Buffet, Camille
Dumont, Anael
Ardois, Samuel
Savey, Léa
Pardon, Agathe
Michel, Pierre-Antoine
Boffa, Jean-Jacques
Grateau, Gilles
Georgin-Lavialle, Sophie
Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review
title Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review
title_full Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review
title_fullStr Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review
title_full_unstemmed Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review
title_short Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review
title_sort amyloid goiter in familial mediterranean fever: description of 42 cases from a french cohort and from literature review
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8125620/
https://www.ncbi.nlm.nih.gov/pubmed/34063105
http://dx.doi.org/10.3390/jcm10091983
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