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• W84875103 abstract "Congenital deficiencies of plasma proteins involved in blood coagulation generally lead to lifelong bleeding disorders, whose severity is inversely proportional to the degree of factor deficiency (less factor/more bleeding). Rare bleeding disorders (RBD), such as afibrinogenaemia, factor (F) II, FV, FV+VIII, FVII, FX, FXI and FXIII deficiencies are autosomal recessive diseases and represent 3% to 5% of all inherited coagulation deficiencies. Their distribution is variable in the world, with a prevalence ranging from approximately 1 in 2,000,000 for FII and FXIII deficiencies to 1 in 500,000 for FVII deficiency. Due to their rarity, RBDs are typically orphan diseases. Treatment of patients with RBDs during bleeding episodes or surgery is a challenge because of limited experience, paucity of data, non-availability of factor concentrates for some deficiency states and the possible occurrence of thrombotic complications, which can be minimised by assessment of the balance between the risks of bleeding and thrombosis, use of haemostatic means other than blood components or no therapy at all. Unfortunately, there are no suitable clinical trials providing good evidence on how these patients should best be treated. Little information is available concerning heterozygotes with mild to moderate levels of coagulation factor deficiency or their bleeding during surgery.The lack of adequate information on the clinical manifestations, treatment and genetic basis of RBDs can be compensated for by the collection and organisation of data on these diseases, and by accurate statistical analysis of such data. Although collected data are not homogeneous and information from many countries are still lacking, a reliable picture of the global distribution of RBDs can be derived from available registries.According to our international database of RBD (www.rbdd.org) and to the World Federation of Hemophilia global survey (http://www.wfh.org/2/7/7_0_Link7_GlobalSurvey2005.htm), there seem to be approximately 600 patients with FX deficiency around the world, accounting for about 9% of the total number of RBDs patients (~7,000), this being the fifth most frequent bleeding disorder, ranking after FXI (37%) and FVII (23%), fibrinogen and FV (10% each) deficiencies and before FXIII (6%), F5F8D (3%) and FII deficiencies (2%). The distribution of FX deficiency varies in different areas of the world, ranging, from ~5–6% in North-America and Europe to ~ 10–14% in South America, Africa, India and Middle East. The incidence of this deficiency is higher in countries with high rates of consanguineous marriages.A correlation might be expected in RBDs patients between the clinical expression of the disease and their laboratory phenotype. However, it is well known from clinical experience that in these patients the relation between the results of coagulation screening tests, the plasma levels of deficient factor and the bleeding tendency can vary from deficiency to deficiency and from patient to patient1.Generation of thrombin is the pivotal step of haemostasis. According to in vitro experiments, thrombin generation occurs in two steps. Initially, small amounts of thrombin are produced after the activation of FX by tissue factor/FVIIa. The initial thrombin propagates coagulation by activating platelets, FV and FVIII. FVIIIa and FIXa, which are generated by tissue factor/FVIIa, assemble on the surface of activated platelets leading to the activation of FX. This results in the generation of large amounts of thrombin, fibrin formation, and, ultimately, clot formation.Thrombin activity can be recorded by continuously measuring the cleavage of a chromogenic or fluorescent substrate, resulting in a thrombin generation curve. Various parameters, including time until thrombin burst, peak and velocity of thrombin generation and total amount of thrombin generated (area under the thrombin generation curve), can be inferred. Moreover, it provides information that other coagulation assays do not give, so that it extends the investigative potential of the coagulation laboratories. Excessive thrombin formation, for example, causes a thrombotic tendency but hardly affects any coagulation times. The thrombin generation test also yields information that cannot be obtained from assays of single clotting factors, because the extraordinary complexity of the thrombin generating mechanism means that there is not a simple relation between factor concentrations and overall function. This is probably because the state of the remaining components of the coagulation system – including platelets 2 – determines whether or not a given patient with coagulation disorder can make sufficient use of the small residual amount of the missing factor.In recent years, parameters of the thrombin generation curve have been assessed in various populations of patients, such as patients affected by haemophilia A and B and RBDs and patients at different risks of venous thromboembolism. Dargaud et al.3 found reduced thrombin generation in 46 patients with haemophilia A or B, while Al Dieri et al.4 reported that, in 88 patients affected by different RBDs, thrombin generation parameters were correlated with the levels of clotting factors and the occurrence and severity of bleeding symptoms. It was also observed that thrombin generation was diminished in FXI deficiency5 and that clinically overt bleeding occurred when thrombin generation drops below 20% of the normal. However, this critical level might differ from one defect to another.In this issue of the Journal, van Veen et al.6 describe the use of a calibrated automated thrombin generation assay to guide and monitor treatment with prothrombin complex concentrate (Beriplex®) in a 31-year old woman with FX:C<0.01 IU/mL and a history of life-threatening spontaneous bleeding during epidural anaesthesia and vaginal delivery. The Authors concluded that it is time to put this technique to use as a tool to monitor treatment and prevent treatment side-effects6. However, given their large inter-individual variability, the usefulness of thrombin generation assays in clinical practice should be tested and evaluated in prospective studies. In addition, it is important to remember that the utility of thrombin generation assays should be analysed in conjunction with other well-standardised available assays prior to evaluating the efficacy of treatment in each patient with a specific deficiency. The thrombin generation assay is not yet well standardised and cannot currently be used alone." @default.
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• W84875103 date "2007-11-01" @default.
• W84875103 modified "2023-09-23" @default.
• W84875103 title "Rare coagulation disorders: an emerging issue." @default.
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