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Rheumatological manifestations, organ damage and autoimmunity in hereditary C2 deficiency.

Jönsson, Göran LU ; Sjöholm, Anders LU ; Truedsson, Lennart LU ; Bengtsson, Anders LU ; Braconier, Jean Henrik LU and Sturfelt, Gunnar LU (2007) In Rheumatology 46(7). p.1133-1139
Abstract
Objective. To analyse rheurnatological manifestations, organ damage and autoimmune responses in a large cohort of patients (n = 45) with homozygous C2 deficiency (C2D) and long-term follow-up. Methods. Medical records were reviewed and were supplemented with a mailed questionnaire for assessment of cardiovascular disease (CVD) risk factors. Organ damage was evaluated using the Systemic Lupus International Collaborative Clinics/American College of Rheumatology Damage Index (SLICC/ACR DI). Causes for disability pensions were investigated. Autoantibodies were determined with established methods. Results. Patients with rheurnatological diseases had systemic lupus erythematosus (SLE, n = 12), undifferentiated connective tissue disease (n=5) or... (More)
Objective. To analyse rheurnatological manifestations, organ damage and autoimmune responses in a large cohort of patients (n = 45) with homozygous C2 deficiency (C2D) and long-term follow-up. Methods. Medical records were reviewed and were supplemented with a mailed questionnaire for assessment of cardiovascular disease (CVD) risk factors. Organ damage was evaluated using the Systemic Lupus International Collaborative Clinics/American College of Rheumatology Damage Index (SLICC/ACR DI). Causes for disability pensions were investigated. Autoantibodies were determined with established methods. Results. Patients with rheurnatological diseases had systemic lupus erythematosus (SLE, n = 12), undifferentiated connective tissue disease (n=5) or vasculitis (n=3). Judging from annual SLICC/ACR DI, C2D patients with SLE run a similar risk of development of severe disease as other patients with SLE. An increased rate of CVD was observed not explained by Framingham-related risk factors. Disability pensions were mainly related to rheurnatological disease. The prevalence of anti-nuclear antibodies in C2D with SLE and of anti-SS-A was 25% while anti-RNP was found in 45%. Only one patient showed antibodies to dsDNA. Formation of anti-cardiolipin antibodies (aCL) appeared to be increased in C2D despite the absence of an anti-phosphol ipid syndrome. The prevalence of antibodies to the collagen-like region of C1q (C1qCLR) was also remarkably high and was not related to rheumatological manifestations. Conclusions. Severity of SLE in C2D is similar to that of SLE in other patients. Conventional risk factors do not explain the occurrence of CVD in C2D. The high prevalence of aCL and anti-C1qCLR indicates mechanisms through which impaired complement function promotes formation of autoantibodies. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
cardiovascular disease, C2 deficiency, antiphospholipid syndrome, autoantibodies, complement, SLE
in
Rheumatology
volume
46
issue
7
pages
1133 - 1139
publisher
Oxford University Press
external identifiers
  • wos:000248450600019
  • scopus:34447318872
ISSN
1462-0332
DOI
10.1093/rheumatology/kem023
language
English
LU publication?
yes
id
4c8306e5-eeaa-40ad-9a1a-5cec21dd06db (old id 168441)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17478473&dopt=Abstract
date added to LUP
2007-07-04 09:41:20
date last changed
2017-10-22 04:32:50
@article{4c8306e5-eeaa-40ad-9a1a-5cec21dd06db,
  abstract     = {Objective. To analyse rheurnatological manifestations, organ damage and autoimmune responses in a large cohort of patients (n = 45) with homozygous C2 deficiency (C2D) and long-term follow-up. Methods. Medical records were reviewed and were supplemented with a mailed questionnaire for assessment of cardiovascular disease (CVD) risk factors. Organ damage was evaluated using the Systemic Lupus International Collaborative Clinics/American College of Rheumatology Damage Index (SLICC/ACR DI). Causes for disability pensions were investigated. Autoantibodies were determined with established methods. Results. Patients with rheurnatological diseases had systemic lupus erythematosus (SLE, n = 12), undifferentiated connective tissue disease (n=5) or vasculitis (n=3). Judging from annual SLICC/ACR DI, C2D patients with SLE run a similar risk of development of severe disease as other patients with SLE. An increased rate of CVD was observed not explained by Framingham-related risk factors. Disability pensions were mainly related to rheurnatological disease. The prevalence of anti-nuclear antibodies in C2D with SLE and of anti-SS-A was 25% while anti-RNP was found in 45%. Only one patient showed antibodies to dsDNA. Formation of anti-cardiolipin antibodies (aCL) appeared to be increased in C2D despite the absence of an anti-phosphol ipid syndrome. The prevalence of antibodies to the collagen-like region of C1q (C1qCLR) was also remarkably high and was not related to rheumatological manifestations. Conclusions. Severity of SLE in C2D is similar to that of SLE in other patients. Conventional risk factors do not explain the occurrence of CVD in C2D. The high prevalence of aCL and anti-C1qCLR indicates mechanisms through which impaired complement function promotes formation of autoantibodies.},
  author       = {Jönsson, Göran and Sjöholm, Anders and Truedsson, Lennart and Bengtsson, Anders and Braconier, Jean Henrik and Sturfelt, Gunnar},
  issn         = {1462-0332},
  keyword      = {cardiovascular disease,C2 deficiency,antiphospholipid syndrome,autoantibodies,complement,SLE},
  language     = {eng},
  number       = {7},
  pages        = {1133--1139},
  publisher    = {Oxford University Press},
  series       = {Rheumatology},
  title        = {Rheumatological manifestations, organ damage and autoimmunity in hereditary C2 deficiency.},
  url          = {http://dx.doi.org/10.1093/rheumatology/kem023},
  volume       = {46},
  year         = {2007},
}