Cargando…

The phenotype and genotype of rheumatoid arthritis in the Democratic Republic of Congo

INTRODUCTION: Little is known about rheumatoid arthritis in the black, particularly in Congolese, populations. Our objective was to describe the phenotype and genotype of rheumatoid arthritis (RA) in Congolese. METHODS: All consecutive rheumatoid arthritis (RA) patients attending Kinshasa University...

Descripción completa

Detalles Bibliográficos
Autores principales: Malemba, JJ, Mbuyi-Muamba, JM, Mukaya, J, Bossuyt, X, Emonds, MP, Deiteren, K, Westhovens, R, Verschueren, P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3979072/
https://www.ncbi.nlm.nih.gov/pubmed/23958186
http://dx.doi.org/10.1186/ar4269
_version_ 1782310680393678848
author Malemba, JJ
Mbuyi-Muamba, JM
Mukaya, J
Bossuyt, X
Emonds, MP
Deiteren, K
Westhovens, R
Verschueren, P
author_facet Malemba, JJ
Mbuyi-Muamba, JM
Mukaya, J
Bossuyt, X
Emonds, MP
Deiteren, K
Westhovens, R
Verschueren, P
author_sort Malemba, JJ
collection PubMed
description INTRODUCTION: Little is known about rheumatoid arthritis in the black, particularly in Congolese, populations. Our objective was to describe the phenotype and genotype of rheumatoid arthritis (RA) in Congolese. METHODS: All consecutive rheumatoid arthritis (RA) patients attending Kinshasa University Hospital in a three-year time period were included. Demographics, clinical features and tobacco consumption were noted. Disease Activity Score (DAS)-28 based on the erythrocyte sedimentation rate (ESR), Health Assessment Questionnaire (HAQ), anti-citrullinated peptide antibodies (CCP) antibodies and rheumatoid factor (RF) were determined. Radiographs were scored according to Sharp-van der Heijde. On a subset of patients and controls HLA-DRB1 typing was performed. RESULTS: A total of 114 females and 14 males aged 51.2 ± 14.9 were included. Mean duration of symptoms was four years. Moderate tobacco consumption was reported in a minority of patients. DAS-28 at first visit was >5.1 and HAQ ≥0.5 in all patients. X-rays showed joint erosions and/or joint space narrowing, mostly of a moderate grade in 55.8% of patients. Anti-CCP and/or RF were present in 48.6% of patients with available data (n = 72) and in 3.0% of controls (n = 67). Radiographic changes and nodules were more frequent in RF or anti-CCP positive patients. One copy of the shared epitope was found in 13 patients (35.1%) and 3 controls (12.5%). Two copies were found in one patient (2.7%) and in one control (4.2%). CONCLUSION: Congolese patients with RA consult long after disease onset. Despite this delay, the majority presents without major damage and is RF, anti-CCP and SE negative. We put forward the hypothesis that besides different environmental factors there is probably also a particular genetic risk profile in Congolese patients, different from the HLA-DRB1 shared epitope.
format Online
Article
Text
id pubmed-3979072
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-39790722014-04-09 The phenotype and genotype of rheumatoid arthritis in the Democratic Republic of Congo Malemba, JJ Mbuyi-Muamba, JM Mukaya, J Bossuyt, X Emonds, MP Deiteren, K Westhovens, R Verschueren, P Arthritis Res Ther Research Article INTRODUCTION: Little is known about rheumatoid arthritis in the black, particularly in Congolese, populations. Our objective was to describe the phenotype and genotype of rheumatoid arthritis (RA) in Congolese. METHODS: All consecutive rheumatoid arthritis (RA) patients attending Kinshasa University Hospital in a three-year time period were included. Demographics, clinical features and tobacco consumption were noted. Disease Activity Score (DAS)-28 based on the erythrocyte sedimentation rate (ESR), Health Assessment Questionnaire (HAQ), anti-citrullinated peptide antibodies (CCP) antibodies and rheumatoid factor (RF) were determined. Radiographs were scored according to Sharp-van der Heijde. On a subset of patients and controls HLA-DRB1 typing was performed. RESULTS: A total of 114 females and 14 males aged 51.2 ± 14.9 were included. Mean duration of symptoms was four years. Moderate tobacco consumption was reported in a minority of patients. DAS-28 at first visit was >5.1 and HAQ ≥0.5 in all patients. X-rays showed joint erosions and/or joint space narrowing, mostly of a moderate grade in 55.8% of patients. Anti-CCP and/or RF were present in 48.6% of patients with available data (n = 72) and in 3.0% of controls (n = 67). Radiographic changes and nodules were more frequent in RF or anti-CCP positive patients. One copy of the shared epitope was found in 13 patients (35.1%) and 3 controls (12.5%). Two copies were found in one patient (2.7%) and in one control (4.2%). CONCLUSION: Congolese patients with RA consult long after disease onset. Despite this delay, the majority presents without major damage and is RF, anti-CCP and SE negative. We put forward the hypothesis that besides different environmental factors there is probably also a particular genetic risk profile in Congolese patients, different from the HLA-DRB1 shared epitope. BioMed Central 2013 2013-08-19 /pmc/articles/PMC3979072/ /pubmed/23958186 http://dx.doi.org/10.1186/ar4269 Text en Copyright © 2013 Malemba et al.; licensee BioMed Central Ltd. licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Malemba, JJ
Mbuyi-Muamba, JM
Mukaya, J
Bossuyt, X
Emonds, MP
Deiteren, K
Westhovens, R
Verschueren, P
The phenotype and genotype of rheumatoid arthritis in the Democratic Republic of Congo
title The phenotype and genotype of rheumatoid arthritis in the Democratic Republic of Congo
title_full The phenotype and genotype of rheumatoid arthritis in the Democratic Republic of Congo
title_fullStr The phenotype and genotype of rheumatoid arthritis in the Democratic Republic of Congo
title_full_unstemmed The phenotype and genotype of rheumatoid arthritis in the Democratic Republic of Congo
title_short The phenotype and genotype of rheumatoid arthritis in the Democratic Republic of Congo
title_sort phenotype and genotype of rheumatoid arthritis in the democratic republic of congo
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3979072/
https://www.ncbi.nlm.nih.gov/pubmed/23958186
http://dx.doi.org/10.1186/ar4269
work_keys_str_mv AT malembajj thephenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT mbuyimuambajm thephenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT mukayaj thephenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT bossuytx thephenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT emondsmp thephenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT deiterenk thephenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT westhovensr thephenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT verschuerenp thephenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT malembajj phenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT mbuyimuambajm phenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT mukayaj phenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT bossuytx phenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT emondsmp phenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT deiterenk phenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT westhovensr phenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo
AT verschuerenp phenotypeandgenotypeofrheumatoidarthritisinthedemocraticrepublicofcongo