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Rare inherited coagulation disorders

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


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 bleeding and perioperative management in hemophilia A and B".)

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

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Literature review current through: Nov 2017. | This topic last updated: Oct 16, 2017.
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