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Hypercoagulability in various autoimmune diseases: no association with factor V Leiden mutation
13rd Department of Internal Medicine, University Medical School, Debrecen, Hungary.
Haematologia
|June 7, 2000
Summary
The Factor V Leiden mutation is common in autoimmune diseases, but doesn't increase thrombosis risk alone. Antiphospholipid antibodies significantly elevate venous thrombosis risk in these patients.
Area of Science:
- Rheumatology
- Hematology
- Genetics
Background:
- Factor V Leiden mutation is a primary inherited risk for venous thrombosis.
- Autoimmune diseases are linked to hypercoagulable states, often due to antiphospholipid antibodies (aPL).
Purpose of the Study:
- To investigate the prevalence of Factor V Leiden mutation and aPL in patients with systemic autoimmune diseases.
- To assess the combined impact of Factor V Leiden mutation and aPL on venous thrombosis occurrence.
Main Methods:
- Polymerase chain reaction (PCR) for Factor V Leiden mutation detection.
- Enzyme-linked immunosorbent assay (ELISA) and screening/confirmatory tests for antiphospholipid antibodies (aPL), including lupus anticoagulant (LA).
- Analysis of data from 137 patients with Sjögren's syndrome, systemic sclerosis, UCTD, and MCTD.
Main Results:
- Factor V Leiden mutation prevalence ranged from 8.3% to 18.0% (13.1% overall) across the studied autoimmune diseases.
- Antiphospholipid antibodies were associated with an increased risk of venous thromboembolism.
- Of eight patients experiencing thromboembolic events, three out of four heterozygous for Factor V Leiden also tested positive for aPL.
Conclusions:
- Factor V Leiden mutation frequency did not differ between examined systemic autoimmune diseases and unselected populations.
- Antiphospholipid antibodies, rather than the Factor V Leiden mutation alone, appear to be a significant risk factor for venous thrombosis in these patients.