Novel treatment for congenital FXIII deficiency
University of Bern.Blood (Impact Factor: 10.45). 05/2012; 119(22):5060-1. DOI: 10.1182/blood-2012-04-422493
Congenital Factor XIII (FXIII) deficiency is a rare autosomal recessive inherited disease leading to severe bleeding diathesis. In this issue of Blood, Inbal and colleagues report on a safe and novel treatment of this rare disorder with recombinant FXIII (rFXIII).
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ABSTRACT: Coagulation factor XIII (FXIII) is best known for its role in fibrin stabilization and crosslinking of antifibrinolytic proteins to the fibrin clot. From patients with congenital FXIII deficiency it was known that FXIII also has important functions in wound healing and maintaning pregnancy. Over the last decade more and more research groups with different backgrounds have studied FXIII and have unveiled putative novel functions for FXIII. FXIII, with its unique role as a transglutaminase among the other serine protease coagulation factors, is now recognized as a multifunctional protein involved in regulatory mechanisms and construction and repair processes beyond hemostasis with possible implications in many areas of medicine. The aim of this review is to give an overview of exciting novel findings and to highlight the remarkable diversity of functions attributed to FXIII. Of course, more research into the underlying mechanisms and (patho-)physiological relevance of the many described functions of FXIII is needed. It will be exciting to observe future developments in this area and to see if and how these interesting findings may be translated into clinical practice in the future. © 2012 International Society on Thrombosis and Haemostasis.
Article: Factor XIII deficiency: an update[Show abstract] [Hide abstract]
ABSTRACT: Confirmation of suspected congenital factor XIII (FXIII) deficiency still represents a diagnostic challenge in the field of rare bleeding disorders. Because of the lack of awareness and difficulties associated with timing of blood sampling, FXIII laboratory assays, and interpretation of laboratory results, diagnoses of FXIII deficiency are still missed all over the world with potentially fatal consequences from severe bleeding complications. Better knowledge of FXIII biochemical properties and function and understanding of the principles and limitations of FXIII laboratory assays can prevent missed diagnoses, and patients will benefit from better care. This review gives a detailed overview and update about congenital FXIII deficiency, its epidemiology, and molecular genetics. It highlights the importance of newer specific FXIII assays and their principles to avoid any missed diagnosis of FXIII deficiency. This review also gives an update on the therapeutic options for patients suffering from this rare but life-threatening disease.