Rheumatological manifestations, organ damage and autoimmunity in hereditary C2 deficiency
| Autor: | Jean Henrik Braconier, Lennart Truedsson, Gunnar Sturfelt, Anders G. Sjöholm, Göran Jönsson, Anders A. Bengtsson |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Vasculitis Systemic disease medicine.medical_specialty Autoimmunity Statistics Nonparametric Disability Evaluation Rheumatology immune system diseases Antiphospholipid syndrome Rheumatic Diseases Immunopathology Internal medicine medicine Humans Lupus Erythematosus Systemic Pharmacology (medical) Connective Tissue Diseases skin and connective tissue diseases Autoantibodies Autoimmune disease Chi-Square Distribution Lupus erythematosus business.industry Complement C1q Undifferentiated connective tissue disease Complement C2 Middle Aged medicine.disease Connective tissue disease Cardiovascular Diseases Antibodies Anticardiolipin Antibodies Antinuclear Immunology Female business Follow-Up Studies |
| Zdroj: | Rheumatology. 46:1133-1139 |
| ISSN: | 1462-0332 1462-0324 |
| DOI: | 10.1093/rheumatology/kem023 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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