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Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever
The aim of the study was to compare the clinical phenotype of patients with familial Mediterranean fever (FMF)-related AA amyloidosis, according to the age of FMF diagnosis and E148Q genotype. Patients with biopsy-confirmed FMF-related AA amyloidosis were included in the study. Tel-Hashomer criteria...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8397076/ https://www.ncbi.nlm.nih.gov/pubmed/34441808 http://dx.doi.org/10.3390/jcm10163511 |
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author | Arici, Zehra Serap Romano, Micol Piskin, David Guzel, Ferhat Sahin, Sezgin Berard, Roberta A. Yilmaz, Mahmut I. Demirkaya, Erkan |
author_facet | Arici, Zehra Serap Romano, Micol Piskin, David Guzel, Ferhat Sahin, Sezgin Berard, Roberta A. Yilmaz, Mahmut I. Demirkaya, Erkan |
author_sort | Arici, Zehra Serap |
collection | PubMed |
description | The aim of the study was to compare the clinical phenotype of patients with familial Mediterranean fever (FMF)-related AA amyloidosis, according to the age of FMF diagnosis and E148Q genotype. Patients with biopsy-confirmed FMF-related AA amyloidosis were included in the study. Tel-Hashomer criteria were applied in the diagnosis of FMF. All patients had detailed baseline assessment of clinical features, renal functions, genetic testing, histopathological diagnosis of amyloidosis, and treatment received. Multiple comparisons were performed according to the age of diagnosis, disease phenotype, mutation, and mortality. Our study included 169 patients with a diagnosis of AA amyloidosis. There were 101 patients diagnosed with FMF < 18 years of age and 68 patients diagnosed who were ≥18 years of age. The three most common clinical manifestations were fever (84.6%), abdominal pain (71.6%), and arthritis (66.9%). The most common allele among FMF patients was M694V (60.6%), followed by E148Q (21.4%), and M680I (10.3%). The most frequent genotypes were M694V/M694V (45.0%), M694V/E148Q (14.8%), and E148Q/E148Q (11.2%) among 169 patients in our cohort. During the follow-up period, 15 patients (10 male, 5 female) died, of whom 14 had M694V homozygous genotype and one was homozygous for E148Q. Clinicians should be aware of patients with homozygous E148Q genotype for close monitoring and further evaluation. The possible relationship between E148Q and AA amyloidosis needs to be confirmed in other ethnicities. |
format | Online Article Text |
id | pubmed-8397076 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-83970762021-08-28 Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever Arici, Zehra Serap Romano, Micol Piskin, David Guzel, Ferhat Sahin, Sezgin Berard, Roberta A. Yilmaz, Mahmut I. Demirkaya, Erkan J Clin Med Article The aim of the study was to compare the clinical phenotype of patients with familial Mediterranean fever (FMF)-related AA amyloidosis, according to the age of FMF diagnosis and E148Q genotype. Patients with biopsy-confirmed FMF-related AA amyloidosis were included in the study. Tel-Hashomer criteria were applied in the diagnosis of FMF. All patients had detailed baseline assessment of clinical features, renal functions, genetic testing, histopathological diagnosis of amyloidosis, and treatment received. Multiple comparisons were performed according to the age of diagnosis, disease phenotype, mutation, and mortality. Our study included 169 patients with a diagnosis of AA amyloidosis. There were 101 patients diagnosed with FMF < 18 years of age and 68 patients diagnosed who were ≥18 years of age. The three most common clinical manifestations were fever (84.6%), abdominal pain (71.6%), and arthritis (66.9%). The most common allele among FMF patients was M694V (60.6%), followed by E148Q (21.4%), and M680I (10.3%). The most frequent genotypes were M694V/M694V (45.0%), M694V/E148Q (14.8%), and E148Q/E148Q (11.2%) among 169 patients in our cohort. During the follow-up period, 15 patients (10 male, 5 female) died, of whom 14 had M694V homozygous genotype and one was homozygous for E148Q. Clinicians should be aware of patients with homozygous E148Q genotype for close monitoring and further evaluation. The possible relationship between E148Q and AA amyloidosis needs to be confirmed in other ethnicities. MDPI 2021-08-10 /pmc/articles/PMC8397076/ /pubmed/34441808 http://dx.doi.org/10.3390/jcm10163511 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 Arici, Zehra Serap Romano, Micol Piskin, David Guzel, Ferhat Sahin, Sezgin Berard, Roberta A. Yilmaz, Mahmut I. Demirkaya, Erkan Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever |
title | Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever |
title_full | Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever |
title_fullStr | Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever |
title_full_unstemmed | Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever |
title_short | Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever |
title_sort | evaluation of e148q and concomitant aa amyloidosis in patients with familial mediterranean fever |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8397076/ https://www.ncbi.nlm.nih.gov/pubmed/34441808 http://dx.doi.org/10.3390/jcm10163511 |
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