Introduction: Haemophilia & von Willebrand disease are both recognised inherited bleeding disorders. With increased access to highly efficient and safe replacement and novel therapies, management of surgical interventions in this group can be safely managed by experienced multidisciplinary teams.
Aim: To review the evidence for managing surgery in the era of novel therapies.
Method: We explore four cases and establish the role of the clinical nurse specialist within the surgical pathway.
Results: All of these cases evidence the continued important role of both the multidisciplinary planning prior to any surgical interventions in people with bleeding disorders and the key role of the Nurse Specialist in ensuring this plan is then implemented. Key focuses of communication with all parties involved in the patient journey, performing education for the patient, family and wider healthcare team about the underlying bleeding disorder and the importance of time critical medicines being given on time is essential.
Conclusion: These cases demonstrate that individuals with bleeding disorders are at risk of developing other rare conditions alongside their life long condition, in addition to comorbidities associated with ageing. Evidence for rare plus rare is likely to be minimal as demonstrated within the cases, and recognition of how to reach out to international peers in the field is important. Sharing complex case management at national & international meetings and in publication has never been so important.
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http://dx.doi.org/10.1111/hae.14543 | DOI Listing |
Hamostaseologie
January 2025
Center for Clinical Transfusion Medicine Tuebingen, Tuebingen, Germany.
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.
View Article and Find Full Text PDFHamostaseologie
January 2025
Center for Thrombosis and Hemostasis, University Medical Center Mainz, Mainz, Germany.
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.
View Article and Find Full Text PDFBlood
January 2025
Medical University of Vienna, Vienna, Austria.
In thrombosis and hemostasis, the formation of a platelet-fibrin thrombus or clot is a highly controlled process that varies, depending on the pathological context. Major signaling pathways in platelets are well established. However, studies with genetically modified mice have identified the contribution of hundreds of additional platelet-expressed proteins in arterial thrombus formation and bleeding.
View Article and Find Full Text PDFHaemophilia
January 2025
Medicine and Pathology, Georgetown University, Washington, District of Columbia, USA.
Introduction: Gene editing therapies offer the possibility of substantial improvement in treatment and quality of life for people with haemophilia (PWH) in a landscape of dynamic therapeutic advancement. Developing a common and understandable language to discuss gene editing will be essential to ensure these treatments can be deployed in a safe and effective manner with fully informed and shared decision-making between healthcare professionals (HCPs) and PWH. A lexicon explaining and clarifying key concepts is one potential tool to address these aims.
View Article and Find Full Text PDFJ Vis Exp
January 2025
Depeartment of Chemical and Biological Engineering, Colorado School of Mines; Quantitative Biosciences and Engineering, Colorado School of Mines;
Platelets are blood cells that play an integral role in hemostasis and the innate immune response. Platelet hyper- and hypoactivity have been implicated in metabolic disorders, increasing risk for both thrombosis and bleeding. Platelet activation and metabolism are tightly linked, with the numerous methods to measure the former but relatively few for the latter.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!