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In this article, our goal is to offer an introduction and overview of the diagnostic approach to inherited platelet function defects (iPFDs) for clinicians and laboratory personnel who are beginning to engage in the field. We describe the most commonly used laboratory methods and propose a diagnostic four-step approach, wherein each stage requires a higher level of expertise and more specialized methods. It should be noted that our proposed approach differs from the ISTH Guidance on this topic in some points. The first step in the diagnostic approach of iPFD should be a thorough medical history and clinical examination. We strongly advocate for the use of a validated bleeding score like the ISTH-BAT (International Society on Thrombosis and Haemostasis Bleeding Assessment Tool). External factors like diet and medication have to be considered. The second step should rule out plasmatic bleeding disorders and von Willebrand disease. Once this has been accomplished, the third step consists of a thorough platelet investigation of platelet phenotype and function. Established methods consist of blood smear analysis by light microscopy, light transmission aggregometry, and flow cytometry. Additional techniques such as lumiaggregometry, immune fluorescence microscopy, and platelet-dependent thrombin generation help confirm and specify the diagnosis of iPFD. In the fourth and last step, genetic testing can confirm a diagnosis, reveal novel mutations, and allow to compare unclear genetics with lab results. If diagnosis cannot be established through this process, experimental methods such as electron microscopy can give insight into the underlying disease.

Case: Paroxysmal nocturnal hemoglobinuria (PNH) is an extremely rare bone marrow disorder caused by acquired mutations in the phosphatidylinositol glycan class A gene, which lead to a partial or total loss of the cellular complement regulators CD55 and CD59.1 In addition to complement-mediated hemolysis and cytopenia, venous and arterial thromboses at multiple and/or unusual sites are a common complication and occur in up to 44% of patients in historic PNH cohorts.1 2.

Congenital platelet disorders are rare and targeted treatment is usually not possible. Inherited platelet function disorders (iPFDs) can affect surface receptors and multiple platelet responses such as defects of platelet granules, signal transduction, and procoagulant activity. If iPFDs are also associated with a reduced platelet count (thrombocytopenia), it is not uncommon to be misdiagnosed as immune thrombocytopenia. Because the bleeding tendency of the different platelet disorders is variable, a correct diagnosis of the platelet defect based on phenotyping, function analysis, and genotyping is essential, especially in the perioperative setting. In the case of a platelet receptor deficiency, such as Bernard-Soulier syndrome or Glanzmann thrombasthenia, not only the bleeding tendency but also the risk of isoimmunization after platelet transfusions or pregnancy has to be considered. Platelet granule disorders are commonly associated with either intrinsically quantitative or qualitative granule defects due to impaired granulopoiesis, or granule release defects, which can also affect additional signaling pathways. Functional platelet defects require expertise in the clinical bleeding tendency in terms of the disorder when using antiplatelet agents or other medications that affect platelet function. Platelet defects associated with hematological-oncological diseases require comprehensive information about the patient including the clinical implication of the genetic testing. This review focuses on genetics, clinical presentation, and laboratory platelet function analysis of iPFDs with or without reduced platelet number. As platelet defects affecting the cytoskeleton usually show thrombocytopenia, but less impaired or normal platelet functional responses, they are not specifically addressed.

Objectives:  To demonstrate the safety of direct oral anticoagulants in relation to intracranial bleeding (ICB), we compared the number of patients taking anticoagulants in all cases of hospitalization and cases of hospitalization for ICB over time in Germany. We analyzed the intrahospital mortality of ICB cases in relation to long-term use of anticoagulants (LUAs).We performed a retrospective registry analysis of nationwide German hospitalizations including all hospital admissions and admission for ICB in patients aged ≥60 years in the period from 2006 to 2020 and separated for LUAs.

Results:  In 2006, the age-standardized rate of hospitalized male patients with LUAs was 7.3% and that of female patients was 5.6%. In 2020, the rates increased to 22.0 and 17.7% for male and female patients, respectively. Among patients hospitalized for ICB in 2006, 7.0 and 5.6% were male and female patients with LUAs, respectively. In 2020, the rate increased to 13.7% for males and 10.8% for females.In 2006, age-standardized mortality rates of male and female patients with ICB without LUAs were 24.1 and 23.9%, respectively. In 2020, the rate slightly decreased to 22.7% in males, but it remained almost unchanged in females at 23.8%. In the cases with LUA, the mortality rate decreased from 30.1 to 24.3% in males and from 28.4 to 24.2% in females in the same period.

Conclusion:  LUA seems to be safe because there is a slower increase of the rate of LUAs in ICB cases than in generally hospitalized cases in the period from 2006 to 2020. In addition, mortality in ICB cases with LUA tends to decrease compared to cases without LUA.

The increasing age of patients with congenital hemophilia poses new challenges for clinicians. Not only the consequences of bleeding but also age-related diseases, especially cardiovascular disorders, are of great concern. Factors such as hypertension, diabetes, or hyperlipidemia further increase the cardiovascular risk in elderly patients with hemophilia. Preventive treatment of these cardiovascular diseases may therefore also be necessary in hemophilia patients. However, determining the optimal level of anticoagulation in patients with reduced levels of coagulation factors is often difficult and requires an individualized approach. Given the absence of substantial evidence from large clinical trials, clinicians rely on case reports and expert opinions to guide the therapy. This case report details the individual risk-benefit assessment and management of a 57-year-old hemophilia A patient with atrial fibrillation.

Cancer-associated thrombosis (CAT) remains a critical concern in hematology and oncology, contributing significantly to morbidity and mortality. The interplay between malignancy and hemostasis has been extensively studied, yet it continues to present clinical challenges and opportunities for advancement in prevention, treatment, and management. This special issue of Haemostaseologie-Progress in Haemostasis-Disorders of Thrombosis and Hemostasis in Cancer brings together seven review articles that explore diverse aspects of CAT, shedding light on current practices and emerging trends.