Abstract
Congenital bleeding disorders are found in all the world’s racial groups. They can affect the plasmatic coagulation cascade, as well as platelet function, with different patterns of inheritance (sex-linked recessive, autosomal recessive, and autosomal dominant). Taken all together, they affect roughly 1 in 200 people. Hemophilia A and B are inherited in a sex-linked recessive way, and together with the much more frequent von Willebrand disease, they constitute the largest group of inherited plasmatic bleeding disorders. In order to avoid catastrophic outcomes, the identification of a congenital bleeding disorder is crucial for the optimization of hemostasis in a perioperative setting. The global coagulation tests – as first-choice laboratory tests – and tests for screening platelet function are useful diagnostic tools. This chapter gives an overview of the pathogenesis, diagnostic tools, and treatment options for congenital bleeding disorders.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsBibliography
Bornikova L, Peyvandi F, Allen G, Bernstein J, Manco-Johnson MJ (2011) Fibrinogen replacement therapy for congenital fibrinogen deficiency. J Thromb Haemost 9(9):1687–1704
Gomez K, Bolton-Maggs P (2008) Factor XI deficiency. Haemophilia 14(6):1183–1189
Hsieh L, Nugent D (2008) Factor XIII deficiency. Haemophilia 14(6):1190–1200
Huang JN, Koerper MA (2008) Factor V deficiency: a concise review. Haemophilia 14(6):1164–1169
Lee CA, Berntorp EE, Hoots WK (eds) (2005) Textbook of haemophilia. Blackwell Publishing Ltd, Oxford
Mannucci PM, Duga S, Peyvandi F (2004) Recessively inherited coagulation disorders. Blood 104(5):1243–1252
Mariani G, Bernardi F (2009) Factor VII deficiency. Semin Thromb Hemost 35(4):400–406
Meeks SL, Abshire TC (2008) Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. Haemophilia 14(6):1159–1163
Michelson AD (ed) (2012) Platelets. Academic Press. London, Waltham, San Diego
Peyvandi F et al (2012) Rare bleeding disorders. Haemophilia 18(4):148–153
Pötz B, Katharina M (eds) (2010) Hämostaseologie. Grundlagen, Diagnostik und Therapie. Springer Verlag, Berlin Heidelberg New York
Sadler JE, Budde U, Eikenboom JC, Favaloro EJ, Hill FG, Holmberg L et al (2006) Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost 4(10):2103–2114
Spreafico M, Peyvandi F (2009) Combined factor V and factor VIII deficiency. Semin Thromb Hemost 35(4):390–399
Stavrou E et al (2010) Factor XII: what does It contribute to our understanding of the physiology and pathophysiology of hemostasis & thrombosis. Thromb Res 125(3):210–215
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2015 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Martinez, M., Graf, L., Tsakiris, D.A. (2015). Congenital Bleeding Disorders. In: Marcucci, C., Schoettker, P. (eds) Perioperative Hemostasis. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-55004-1_6
Download citation
DOI: https://doi.org/10.1007/978-3-642-55004-1_6
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-55003-4
Online ISBN: 978-3-642-55004-1
eBook Packages: MedicineMedicine (R0)