Thrombin generation assay: interactions between chronic inflammation and haemostasis in patients with autoimmune diseases.

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.

Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes.

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.

The role of nail-videocapillaroscopy in early diagnosis of scleroderma.

Raynaud's phenomenon (RP) is a clinical sign of precocious abnormal microcirculation and can be considered a major risk factor for the development of connective tissue disease, especially systemic sclerosis (SSc). Nailfold videocapillaroscopy is the most valuable tool for the early diagnosis of SSc and related disorders. It allows classification of capillary abnormalities. Scoring capillaroscopic alterations, which change significantly during patient follow-up, should be systematically used in order to monitor microangiopathy. The effectiveness of the nailfold videocapillaroscopy in allowing an early diagnosis of SSc and monitoring the progression of the disease, and its predictive value of clinical complications make it a powerful tool for clinical evaluation and research.

[Hepatitis virus-related nephropathies]. / Virus epatitici e nefropatie correlate.

The extrahepatic manifestations of hepatitis B virus infection include reactive arthritis, vasculitis (panarteritis nodosa) and primary glomerulonephritis (membranous nephropathy, membranoproliferative glomerulonephritis and, less frequently, IgA nephropathy, focal and segmental glomerulosclerosis, minimal change disease, and extracapillary glomerulonephritis). No specific histomorphological patterns have been reported in association with HDV infection. Cryoglobulinemic glomerulonephritis is the only pattern of glomerular involvement unequivocally related to HCV infection. The treatment of HBV-related glomerulopathies is essentially antiviral. Corticosteroids have been proven to be ineffective (except in panarteritis nodosa), while immunosuppressants can lead to exacerbation of HBV infection. The treatment of HCV-related nephritis, especially cryoglobulinemic glomerulonephritis, encompasses various options including both conventional and novel immunomodulatory agents, possibly combined with antiviral therapy.