TY - CHAP M1 - Book, Section TI - Inherited Deficiencies of Coagulation Factors II, V, V+VIII, VII, X, XI, and XIII A1 - Peyvandi, Flora A1 - Menegatti, Marzia A2 - Kaushansky, Kenneth A2 - Prchal, Josef T. A2 - Burns, Linda J. A2 - Lichtman, Marshall A. A2 - Levi, Marcel A2 - Linch, David C. Y1 - 2021 N1 - T2 - Williams Hematology, 10e AB - SUMMARYRare bleeding disorders (RBDs), accounting for the 3% to 5% of patients with abnormal hemostasis, include the inherited deficiencies of coagulation factor II (prothrombin), factor V, combined factor V/VIII, factor VII, factor X, factor XI, factor XIII, and fibrinogen. The prevalence of RBDs is variable, both the relative frequency among the different factors and frequency in different regions of the world. The genetic transmission of these disorders is usually autosomal recessive. Bleeding manifestations caused by these inherited deficiencies are of variable severity and usually related to the extent of the decreased activity of the particular coagulation factor. Usually, only homozygous and compound heterozygous patients are symptomatic, although occasionally heterozygotes display a bleeding tendency. On the whole, the most typical symptom, common to all RBDs, is the occurrence of mucosal bleeding, whereas life-endangering bleeding, such as CNS or umbilical cord bleeding, is more frequent only in some deficiencies, such as afibrinogenemia, severe factor XIII and factor X deficiencies, characterized by very low or undetectable coagulant activity. Treatment of patients affected with the various coagulation factor deficiencies could be (a) on demand for spontaneous bleeding episodes, (b) during the management of surgical procedures, and (c) for prevention of bleeding by prophylaxis. Because of the rarity of these disorders and the technical limitations of laboratory testing and the lack of specific concentrates, a unified, evidence-based therapeutic approach for each RBD is not always available. To overcome these limitations, global partnerships and networking between treatment centers have been developed to increase our knowledge and create platforms for researchers and clinicians to exchange information. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1178755248 ER -