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

Abstract

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.

Prevalence and Clinical Associations of Antiphospholipid Antibodies in Systemic Sclerosis: New Data From a French Cross-Sectional Study, Systematic Review, and Meta-Analysis

“…The prevalence of aPL in SSc in our study was 6.4% (3.8–10.4), which is rather low compared to previous reports. Although the prevalence of aPL ranges from 0 to 57% in the literature ( 8 , 10 , 12 , 13 , 21 – 27 , 29 – 40 ), most of the studies reported an overall prevalence higher than 10% and the overall pooled prevalence of aPL in SSc was 14% (9–20) as found by our meta-analysis. The important variation in the prevalence of aPL reported in literature was associated with a high heterogeneity among studies included in our meta-analysis.…”

Under the dual effect of inflammation and pulmonary fibrosis, CTD-ILD patients possess a greater susceptibility to VTE

“…Therefore, when CTD-ILD patients present with increased dyspnea and VTE, there may be a common driver for both. Although existing studies have found a low incidence of the coagulation factor V Leiden mutation in patients with CTD, and it is not possible to confirm whether there is a direct association between this mutation and the development of VTE in patients with CTD-ILD [ 141 ], patients with CTD-ILD who are positive for the coagulation factor V Leiden mutation should be highly vigilant for the development of VTE in the clinic, especially when the patients present with severe dyspnea.…”