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British Journal of Haematology Aug 2016Thromboelastography (TEG) was first described by Hartert in 1948, and was designed to monitor viscoelastic clot strength in whole blood in real time. The current TEG... (Review)
Review
Thromboelastography (TEG) was first described by Hartert in 1948, and was designed to monitor viscoelastic clot strength in whole blood in real time. The current TEG method and Rotational Thromboelastometry (ROTEM) were subsequently developed from the original principles. Both of the modern methods provide data by measuring changes in the viscoelastic strength of a small sample of clotting blood in response to a constant rotational force. The important advantage of these techniques is to visually observe and quantify blood coagulation including the propagation, stabilization and dissolution phases of clot formation under low shear conditions. Analysis of the results provides detailed kinetic data on fibrin generation, clot strength and fibrinolysis. These TEG/ROTEM analyses therefore enable evaluation of global clotting function and the monitoring of haemostatic treatment in various clinical situations, not only in patients with genetic bleeding disorders, such as haemophilia, but also in patients undergoing cardiac surgery, liver transplantation or suffering from traumatic injury. Some evidence suggests that haemostatic management using TEG/ROTEM leads to a reduction in total transfusions of whole blood or clotting factors. Wider clinical application of this technology seems likely.
Topics: Blood Coagulation Disorders; Blood Coagulation Tests; Hemorrhagic Disorders; Humans; Monitoring, Physiologic; Thrombelastography
PubMed: 27264484
DOI: 10.1111/bjh.14148 -
Blood Reviews Nov 2021Factor X deficiency is a rare coagulation disorder that can be hereditary or acquired. The typology and severity of the associated bleeding symptoms are highly... (Review)
Review
Factor X deficiency is a rare coagulation disorder that can be hereditary or acquired. The typology and severity of the associated bleeding symptoms are highly heterogeneous, adding to the difficulties of diagnosis and management. Evidence-based guidelines and reviews on factor X deficiency are generally limited to publications covering a range of rare bleeding disorders. Here we provide a comprehensive review of the literature on factor X deficiency, focusing on the hereditary form, and discuss the evolution in disease management and the evidence associated with available treatment options. Current recommendations advise clinicians to use single-factor replacement therapy for hereditary disease rather than multifactor therapies such as fresh frozen plasma, cryoprecipitate, and prothrombin complex concentrates. Consensus in treatment guidelines is still urgently needed to ensure optimal management of patients with factor X deficiency across the spectrum of disease severity.
Topics: Blood Coagulation; Blood Coagulation Disorders; Factor X Deficiency; Hemorrhage; Hemorrhagic Disorders; Humans
PubMed: 34024682
DOI: 10.1016/j.blre.2021.100833 -
Genetics in Medicine : Official Journal... 2004Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a relatively common, underdiagnosed autosomal-dominant disorder of arteriovenous malformations and... (Review)
Review
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a relatively common, underdiagnosed autosomal-dominant disorder of arteriovenous malformations and telangiectases. DNA testing for hereditary hemorrhagic telangiectasia has recently become available in North America, making presymptomatic screening available to relatives with a positive molecular diagnosis. This now enables practitioners to prevent catastrophic complications of undiagnosed pulmonary and CNS arteriovenous malformations and eliminates the need to radiographically screen all at-risk relatives shown to be unaffected by molecular testing. We review the clinical aspects of hereditary hemorrhagic telangiectasia, describe the indications, benefits, and limitations of molecular diagnostic testing for hereditary hemorrhagic telangiectasia, and provide a molecular genetics summary to facilitate genetic counseling before and after DNA testing for this complex disorder.
Topics: Genetic Counseling; Genetic Testing; Humans; Mutation; Telangiectasia, Hereditary Hemorrhagic
PubMed: 15266205
DOI: 10.1097/01.gim.0000132689.25644.7c -
American Journal of Hematology Jan 2022Coronavirus disease 19 (COVID-19) is considered a multisystemic disease. Several studies have reported persistent symptoms or late-onset complications after acute... (Review)
Review
Coronavirus disease 19 (COVID-19) is considered a multisystemic disease. Several studies have reported persistent symptoms or late-onset complications after acute COVID-19, including post-COVID-19 hematological disorders. COVID-19-induced coagulopathy, an immunothrombotic state, has been linked to thromboembolic and hemorrhagic events. Late-onset thrombocytopenia related to immune system dysregulation has also been reported as a rare manifestation post COVID-19. Close monitoring of laboratory dynamics is considered essential to identify timely abnormal values that need further investigation, providing supportive care whenever indicated. The role of hematologists is essential in terms of the multidisciplinary approach of long COVID-19. This review summarizes all the available evidence on post-acute COVID-19 hematological complications.
Topics: Animals; COVID-19; Disease Management; Hematologic Diseases; Hemorrhagic Disorders; Humans; SARS-CoV-2; Thrombocytopenia; Thromboembolism; Thrombosis; Post-Acute COVID-19 Syndrome
PubMed: 34687462
DOI: 10.1002/ajh.26384 -
Haematologica Mar 2023
Topics: Humans; Blood Coagulation Disorders; Hemorrhage; Hemorrhagic Disorders; Vascular Diseases
PubMed: 35638552
DOI: 10.3324/haematol.2022.281354 -
Clinical and Applied... May 2018Coagulation disorders can be classified into 2 types, namely, type I and type II. In the former, there is a concomitant decrease in factor activity and antigen... (Review)
Review
Coagulation disorders can be classified into 2 types, namely, type I and type II. In the former, there is a concomitant decrease in factor activity and antigen (activity-antigen ratio is 1), whereas in the latter, there is a discrepancy between factor activity which is always low and antigen which is normal or near normal (activity-antigen ratio is <1, eg, 0.5). Recently, several gain-of-function disorders have been described. These are characterized by an increased activity with respect to the antigen level. The condition involves polymorphisms of factor V and factor II, factor IX, von Willebrand disease, thrombomodulin, tissue factor pathway inhibitor, and thrombin activatable fibrinolysis inhibitor. The conditions could be subdivided into prothrombotic and prohemorrhagic. They should also be distinguished as cases of true gain of function (intrinsic increase activity without concomitant increase in protein level) and of "pseudo" gain of function (increase in both activity and protein level). This is a new concept of coagulation defects that has considerably enhanced our knowledge of blood coagulation and that should be familiar to all those interested in the mechanism of blood clotting and its disorders.
Topics: Adolescent; Adult; Blood Coagulation Disorders; Blood Coagulation Tests; Child; Female; Hemorrhagic Disorders; Humans; Male; Thrombosis
PubMed: 28774197
DOI: 10.1177/1076029617721012 -
Hamostaseologie Feb 2023Platelets play an important role regarding coagulation by contributing to thrombus formation by platelet adhesion, aggregation, and α-/δ-granule secretion. Inherited...
Platelets play an important role regarding coagulation by contributing to thrombus formation by platelet adhesion, aggregation, and α-/δ-granule secretion. Inherited platelet disorders (IPDs) are a very heterogeneous group of disorders that are phenotypically and biochemically diverse. Platelet dysfunction (thrombocytopathy) can be accompanied by a reduction in the number of thrombocytes (thrombocytopenia). The extent of the bleeding tendency can vary greatly. Symptoms comprise mucocutaneous bleeding (petechiae, gastrointestinal bleeding and/or menorrhagia, epistaxis) and increased hematoma tendency. Life-threatening bleeding can occur after trauma or surgery. In the last years, next-generation sequencing had a great impact on unrevealing the underlying genetic cause of individual IPDs. Because IPDs are so diverse, a comprehensive analysis of platelet function and genetic testing is indispensable.
Topics: Female; Humans; Blood Platelet Disorders; Blood Coagulation Disorders; Blood Platelets; Hemorrhagic Disorders; Thrombocytopenia
PubMed: 36807820
DOI: 10.1055/a-1987-3310 -
Journal of Thrombosis and Haemostasis :... Oct 2005
Review
Topics: Arteriovenous Malformations; Hemorrhage; History, 19th Century; History, 20th Century; History, 21st Century; Humans; Mutation; Telangiectasia, Hereditary Hemorrhagic
PubMed: 15892861
DOI: 10.1111/j.1538-7836.2005.01345.x -
Journal of Thrombosis and Haemostasis :... Nov 2012A personal history of excessive mucocutaneous bleeding is a key component in the diagnosis of a number of mild bleeding disorders, including von Willebrand disease... (Review)
Review
A personal history of excessive mucocutaneous bleeding is a key component in the diagnosis of a number of mild bleeding disorders, including von Willebrand disease (VWD), platelet function disorders (PFD), and coagulation factor deficiencies. However, the evaluation of hemorrhagic symptoms is a well-recognized challenge for both patients and physicians, because the reporting and interpretation of bleeding symptoms is subjective. As a result, bleeding assessment tools (BATs) have been developed and studied in a variety of clinical settings. This work has been pioneered by a group of Italian researchers, and the resultant 'Vicenza Bleeding Questionnaire' stands as the original BAT. In this review, we will discuss the modifications of the Vicenza Bleeding Questionnaire that have taken place over the years, as well as the validation studies that have been published. Other BATs that have been developed and published will be reviewed, as will the special situations of assessing pediatric bleeding as well as menorrhagia. Lastly, the clinical utility of BATs will be discussed including remaining challenges and future directions for the field.
Topics: Algorithms; Blood Coagulation Disorders; Blood Platelet Disorders; Female; Hemorrhage; Hemorrhagic Disorders; Hemostasis; Humans; Male; Menorrhagia; Prevalence; Severity of Illness Index; Surveys and Questionnaires; Symptom Assessment; von Willebrand Diseases
PubMed: 22974079
DOI: 10.1111/j.1538-7836.2012.04923.x -
Blood Nov 2018Heavy menstrual bleeding (HMB) is frequently reported by adolescents. The role of the hematologist is threefold in the evaluation of such patients: 1) perform a clinical... (Review)
Review
Heavy menstrual bleeding (HMB) is frequently reported by adolescents. The role of the hematologist is threefold in the evaluation of such patients: 1) perform a clinical and laboratory evaluation for an underlying bleeding disorder based on the degree of clinical suspicion, 2) identify and manage any concomitant iron deficiency, and 3) provide input to the referring provider regarding the management of HMB, particulary for patients with identified hemostatic defects. Several clues in the menstrual history should raise suspicion for an underlying bleeding disorder, such as menses lasting >7 days, menstrual flow which soaks >5 products daily or requires product change during the night, passage of large blood clots, or failure to respond to conventional therapies. A detailed personal and family history of other bleeding symptoms should also be obtained. Iron deficiency with and without anemia is commonly found in young women with HMB. Therefore, it is important to obtain not only a hemoglobin, but also a ferritin level, when evaluating these patients. Iron supplementation is often a key component of management in the adolescent with heavy menses, and is still needed even in those who have received packed red cell transfusions due to severe anemia. Strategies for decreasing menstrual blood flow are similar between adults and adolescents with heavy menses, with combined hormonal contraceptives recommended as first-line therapy. However, adolescent-specific considerations exist for many of these agents, and must be incorporated into shared decision making when selecting the most appropriate treatment.
Topics: Adolescent; Anemia, Iron-Deficiency; Female; Hematology; Hemorrhagic Disorders; Humans; Menorrhagia
PubMed: 30429157
DOI: 10.1182/blood-2018-05-848739