ABSTRACT
OBJECTIVES: Growing evidences show a direct link between inflammation and activation of haemostasis. That could increase thrombotic and cardiovascular risk in patients with active autoimmune diseases such as rheumatoid arthritis (RA) and systemic sclerosis (SSc). The aim of this study was to evaluate a possible hypercoagulable condition in RA and SSc patients, using the thrombin generation assay (TGA). METHODS: TGA was assessed in 44 RA [33 with active disease (actRA) and 11 inactive (non-actRA)], 25 SSc patients and 41 healthy controls using a fluorimetric technique and the TGA RB Low reagent. The Lag time (tLag), the time to thrombin peak (tPeak), the maximal concentration of formed thrombin (Peak), the velocity of thrombin generation (velocity) and the total amount of thrombin generated (AUC) were determined. RESULTS: As compared to the control group, tLag was found to be significantly reduced both in patients with actRA (p=0.0001) and non-actRA (p=0.01); tPeak was found to be reduced in actRA patients (p=0.0002). Similarly, as compared to healthy subjects, Peak and AUC were found to be increased in actRA patients (p=0.01; p=0.002), as well as D-dimer (p=0.01). Analysing SSc vs RA, a higher Peak and AUC were detected in RA patients. CONCLUSIONS: The TGA profile identified in actRA patients (decreased tLag and tPeak combined with higher thrombin peak and greater AUC) reflects a hypercoagulable state that could make patients more susceptible to develop a cardiovascular disease.
Subject(s)
Arthritis, Rheumatoid/blood , Autoimmune Diseases/blood , Blood Coagulation Tests , Blood Coagulation , Inflammation/blood , Scleroderma, Systemic/blood , Thrombin/metabolism , Adult , Aged , Aged, 80 and over , Area Under Curve , Arthritis, Rheumatoid/diagnosis , Arthritis, Rheumatoid/immunology , Autoimmune Diseases/diagnosis , Autoimmune Diseases/immunology , Biomarkers/blood , Case-Control Studies , Chronic Disease , Female , Fluorometry , Humans , Inflammation/diagnosis , Inflammation/immunology , Kinetics , Male , Middle Aged , Predictive Value of Tests , ROC Curve , Reproducibility of Results , Scleroderma, Systemic/diagnosis , Scleroderma, Systemic/immunologyABSTRACT
We report the case of a 22-year-old Caucasian woman presenting with a new-onset nephrotic syndrome with normal renal function during the 35th week of pregnancy. AA (secondary) amyloidosis was further diagnosed at the renal biopsy. Extensive genetic testing revealed that the patient was heterozygous for both TNFRSF1A p.R92Q and MEFV p.M694I mutations leading to an autoinflammatory syndrome characterized by amyloid deposition as the sole manifestation.
