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Rare inherited coagulation disorders

Author
Pier Mannuccio Mannucci, MD
Section Editor
Lawrence LK Leung, MD
Deputy Editor
Jennifer S Tirnauer, MD

INTRODUCTION

A variety of inherited coagulation disorders are associated with clinical bleeding, including inherited deficiencies of factors XIII (13), XI (11), X (10), VII (7), V (5), and II (2, prothrombin), as well as some rare combined factor deficiencies. These conditions may be referred to as rare (or recessively) inherited coagulation disorders (RICDs); rare coagulation deficiencies (RCDs); rare bleeding disorders (RBDs); or rare congenital bleeding disorders.

This topic review discusses the genetics, diagnosis, and management of inherited deficiencies of factor XIII, X, VII, V, II, and combined deficiencies of factors V and VIII, and vitamin K-dependent factors.

The more common inherited coagulation disorders, such as von Willebrand disease (VWD), hemophilia A and B, factor XI (11) deficiency, and fibrinogen disorders, are discussed in detail in separate topic reviews:

Hemophilia A and B – (See "Clinical manifestations and diagnosis of hemophilia" and "Treatment of hemophilia".)

Von Willebrand disease – (See "Clinical presentation and diagnosis of von Willebrand disease".)

                                    

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Literature review current through: Nov 2016. | This topic last updated: Mon Nov 21 00:00:00 GMT+00:00 2016.
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