Publications by authors named "Favaloro E"

The antiphospholipid syndrome (APS) is an autoimmune condition characterised by a wide range of clinical features (primarily thrombosis and/or obstetric related), associated with the presence of antiphospholipid antibodies (aPL) as detected by a diverse range of laboratory tests. APS remains a significant diagnostic challenge for clinicians across a wide range of specialities, largely due to issues related to laboratory testing as well as the expanding range of reported clinical manifestations of APS. The laboratory issues include limitations in detailed knowledge by both clinical and laboratory personnel regarding the 'complete' range of available aPL tests, as well as ongoing problems with assay reproducibility and standardisation.

View Article and Find Full Text PDF

The hemostatic balance is a complex system where the delicate equilibrium is regulated by several factors including hormones. A variety of endocrine disorders have been reported to be associated with coagulation abnormalities, ranging from mild laboratory changes to clinically relevant thrombotic or bleeding manifestations. In this review, we summarize the current knowledge on the main abnormalities of the coagulation and fibrinolytic systems associated with thyroid dysfunctions.

View Article and Find Full Text PDF

The clotting factor V, also known as proaccelerin or labile factor, is synthesized by the liver and possibly by the megakaryocytes. Factor V exerts a pivotal role in hemostasis, as it participates in both procoagulant and anticoagulant pathways, being an essential cofactor of the prothrombinase complex in the former case and participating in the inactivation of factor VIII (FVIII) in the latter. Isolated factor V deficiency due to mutations in the F5 gene is a rare inherited coagulopathy typically associated with a broad spectrum of bleeding symptoms, ranging from easy bruising, delayed bleeding after haemostatic challenges such as trauma or surgery to more severe joint bleeds.

View Article and Find Full Text PDF

von Willebrand disease (VWD) is the most common inherited bleeding disorder and arises from deficiencies and/or defects in the plasma protein von Willebrand factor (VWF). VWD is classified into 6 different types, with type 1 identified as a (partial) quantitative deficiency of VWF, type 3 defined by a (virtual) total deficiency of VWF, and type 2 identifying four separate types (2A, 2B, 2M, 2N) characterised by qualitative defects. The classification is based on phenotypic assays including FVIII, VWF:Ag and VWF activity, typically by ristocetin cofactor (VWF:RCo), but also increasingly by collagen binding (VWF:CB).

View Article and Find Full Text PDF

The current report provides a personal perspective summarising some interesting recent developments in hemostasis, as well as providing a brief glimpse into some possible imminent changes to come. We briefly review routine coagulation tests, and what changes may take place related to the new emerging anticoagulants. We also briefly review the old and new global tests of hemostasis, including thrombin generation and thromboelastography.

View Article and Find Full Text PDF

Introduction: Spuriously hemolyzed specimens are the most common preanalytical problems in clinical laboratories. Corrective formulas have been proposed to allow the laboratory to release test results on these specimens. This study aimed to assess the influence of spurious hemolysis and reliability of corrective formulas.

View Article and Find Full Text PDF

Phenotypic diagnosis of VWD, in particular type 2, is challenging. Molecular diagnosis may fail to provide clarity since mutations within a short stretch of the same domain may cause various phenotypes, and since even experts will ascribe different subtypes to similar mutations. We assessed diagnostic difficulty in VWD by investigating five cases where phenotypic data was unclear.

View Article and Find Full Text PDF

This study reports on the evaluation of seven commercial von Willebrand factor (VWF) collagen binding (VWF:CB) assays to potentially assist the discrimination of types 1 and 2 von Willebrand disease (VWD). Samples from 25 patients with type 1 VWD, of varying severity, were co-tested with 16 samples from patients with types 2A or 2B VWD, plus various control samples, using each commercial VWF:CB assay assessed against our standard (reference) in-house VWF:CB assay, as well as our in-house VWF antigen (VWF:Ag) and ristocetin cofactor (VWF:RCo) assays. Commercial VWF:CB assays varied in their ability to discriminate types 1 and 2A/2B VWD.

View Article and Find Full Text PDF

The plasma concentration of C-reactive protein (CRP), the first acute-phase protein to be identified, increases dramatically following tissue injury or inflammation. Although the physiological role of CRP is still not fully known, it has been suggested that concentrations might increase as part of the acute-phase response for facilitating non-specific immune functions, defense against bacterial pathogens, clearance of apoptotic and necrotic cells to prevent immunization against autoantigens and acceleration of the repair process. In agreement with the evidence that inflammation plays a pivotal role in the pathogenesis of atherosclerosis, CRP concentrations have been associated with cardiovascular disease, and measurement of CRP has therefore been proposed as a valuable aid to predict and stratify the risk of myocardial infarction and stroke.

View Article and Find Full Text PDF

Background: The antiphospholipid syndrome (APS) is an autoimmune condition characterised by vascular thromboses and/or pregnancy morbidity. Diagnosis of APS typically requires laboratory evidence of antiphospholipid antibodies (aPL). Depending on their clinical presentation, affected individuals might be seen by a variety of clinical specialities.

View Article and Find Full Text PDF

Angiogenesis plays a pivotal role in many serious and life-threatening disorders (e.g., cancer, atherosclerosis, diabetes, arthritis, psoriasis, nephropathy, and retinopathy) and is regulated by a delicate equilibrium between a variety of pro- and anti-angiogenic factors.

View Article and Find Full Text PDF

The synthesis of erythropoiesis-stimulating agents (ESAs), especially recombinant human erythropoietin, has provided a new therapeutic option for the treatment of patients with various forms of anemia, including that of chronic renal disease, malignancy, hematologic disorders, prematurity, and acquired immune deficiency syndrome. These agents are effective in improving the hematologic response and reducing the need for red blood cells transfusion, and they also appear to have a positive effect on some health-related quality-of-life indicators. The incidence of side effects and survival, however, remains highly uncertain, and several studies have recently highlighted the problem of an increased trend of tumor progression, mortality and thrombotic complications, especially venous thromboembolism, in patients undergoing therapy with ESAs.

View Article and Find Full Text PDF

Throughout the long history of the hemostasis laboratory, and as an evaluation of the coagulation cascade, the results of the activated partial thromboplastin time (APTT) have primarily been considered as an index of loss-of-function and rarely as an index of gain-of-function. Nevertheless, there are now several clinical and technical reasons that no longer allow us to simply ignore or overlook shortened APTTs in laboratory practice. It has long been suspected that the leading cause of shortened APTTs are related to preanalytical problems, in which case it would be inappropriate for a laboratory to issue such a test result, which would expectedly not adequately mirror the patient's true condition.

View Article and Find Full Text PDF