This guideline is intended to provide practical guidance for the diagnosis and treatment of haemophilia in Austria. Few randomized controlled interventional trials are available addressing the treatment of haemophilia, therefore recommendations are usually based on low level of evidence and represent expert consensus.This guideline is based on the WFH guideline, published in 2020, and adapted according to the national circumstances and experience.It includes recommendations and suggestions for diagnosis and follow-up visits and pharmacological therapies for treatment and prophylaxis. Further topics comprise special aspects in children and adults with severe haemophilia, outcome measurement, and management of trauma, special bleedings and interventions, including dental procedures, inhibitors, management of haemophilia carriers, and psychosocial aspects.
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http://dx.doi.org/10.1007/s00508-024-02370-0 | DOI Listing |
J Blood Med
January 2025
Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan.
Purpose: Prophylaxis with recombinant factor VIII (rFVIII) products is the gold-standard treatment for hemophilia A. However, interindividual differences affect the half-life and clearance of rFVIII products. The myPKFiT is a web-based medical-device software program for population pharmacokinetic (PK) simulation of FVIII products to guide accurate FVIII doses and dosing intervals.
View Article and Find Full Text PDFRes Pract Thromb Haemost
January 2025
Department of Pediatrics and Pathology, University of Michigan, Ann Arbor, Michigan, USA.
Congenital hemophilia A (HA) disease severity has traditionally been categorized according to intrinsic factor (F)VIII levels, with <1% of normal indicating severe HA, 1% to 5% moderate HA, and 6% to 40% mild HA. However, mounting evidence illustrates considerable variability in bleeding phenotype regardless of FVIII level. Despite treatment advances, people with moderate or mild HA may be neglected, as treatment guidelines and established norms focus on FVIII levels, and many clinical trials do not include people with FVIII > 1%.
View Article and Find Full Text PDFRes Pract Thromb Haemost
January 2025
Department of Pediatric Hematology, Innovative Hematology, Indiana Hemophilia and Thrombosis Center, Indianapolis, Indiana, USA.
Background: The development of acquired factor (F)V with inhibitor (AFVwI) is rare, resulting mainly in bleeding complications, although sporadic cases of thrombosis in adults have been reported.
Key Clinical Question: How do you diagnose and manage a pediatric case of acute deep venous thrombosis associated with the concurrent finding of AFVwI?
Clinical Approach: A 13-year-old female with Crohn's Disease and May-Thurner anatomy developed extensive deep venous thrombosis of the left lower extremity, complicated by the finding of AFVwI, discovered during the evaluation of a prolonged prothrombin time and a low FV activity. Anticoagulation was initiated with low-molecular-weight heparin followed by a direct oral anticoagulant, rivaroxaban, without any complications.
Res Pract Thromb Haemost
January 2025
Dipartimento di Fisiopatologia Medico-chirurgica e dei Trapianti, Università degli Studi di Milano, Milano, Italia.
Hemophilia A and B are hereditary bleeding disorders associated with the X chromosome, stemming from genetic defects in the coding of coagulation factor (F)VIII or FIX protein, leading to partial or complete deficiency. In the absence of effective prophylaxis, these deficiencies can result in irreversible joint damage, known as hemophilic arthropathy, and subsequent disability. Despite advancements in hemophilia treatment, individuals with severe forms of the disease continue to face a high risk of bleeding, particularly in instances of trauma or major surgical procedures.
View Article and Find Full Text PDFCurr Pharm Des
January 2025
School of Chemical Engineering, College of Engineering, University of Tehran, Tehran, Iran.
Hemophilia A (HA) is an inherited condition that is characterized by a lack of coagulation factor VIII (FVIII), which is needed for blood clotting. To produce recombinant factor VIII (rFVIII) for treatment, innovative methods are required. This study presents a thorough examination of the genetic engineering and biotechnological methods that are essential for the production of this complex process.
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