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Hypercoagulability in various autoimmune diseases: no association with factor V Leiden mutation

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The coagulation factor V Leiden mutation, leading to resistance to activated protein C (APC), is the most common inherited risk factor for venous thrombosis. In various systemic autoimmune diseases the hypercoagulable state was shown to be associated with the presence of antiphospholipid antibodies (aPL). Our aim was to determine the prevalence of both, Leiden mutation and aPL in autoimmune diseases and their impact on the occurrence of venous thrombosis.

The dataset consists of results from 137 patients having Sjögren's syndrome (n = 50), progressive systemic sclerosis (n = 43) (PSS), undifferentiated connective tissue disease (n = 24) (UCTD) and mixed connective tissue disease (n = 20) (MCTD) with or without venous thromboembolic complications. The Leiden mutation was detected with polymerase chain reaction (PCR), aPL, such as lupus anticoagulant (LA) with screening and confirmatory procedures and others with enzyme linked immunosorbent assay (ELISA). The prevalence of mutation ranged between 8.3% and 18.0% (13.1%). The thromboembolic risk was found to be increased in the presence of aPL. Eight patients (5.84%) (4 heterozygous) experienced thromboembolic events and 3 out of 4 heterozygous showed aPL positivity, too.

There were no difference between the frequencies of Leiden mutation in examined systemic autoimmune diseases and unselected populations.


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