Inherited deficiencies of plasma proteins involved in blood coagulation generally lead to lifelong bleeding disorders. Rare bleeding disorders (RBDs), discussed in this chapter, represent 3–5 % of all the inherited coagulation deficiencies, with prevalence ranging from approximately 1:500,000 to 1:2,000,000 in the general population. Patients affected with bleeding disorders present a wide spectrum of clinical symptoms that vary from a mild or moderate bleeding tendency to severe episodes. Women with inherited bleeding disorders are particularly disadvantaged since, in addition to suffering from general bleeding symptoms, they are also at risk of bleeding complications from regular haemostatic challenges: menstruation, pregnancy and childbirth. Moreover, affected women may experience reduced quality of life caused by limitations in activities and work, and the impact on their reproductive life. Management of women with RBDs is difficult because of considerable inter-individual variation. Furthermore, reliable information on clinical management is scarce, with only a few long-term prospective studies of large cohorts providing evidence to guide diagnosis and treatment.

Inherited bleeding disorders in pregnancy: rare coagulation factor defects / F. Peyvandi, M. Menegatti, S. Siboni - In: Disorders of thrombosis and hemostasis in pregnancy : a guide to management / [a cura di] H. Cohen, P. O'Brien. - Prima edizione. - [s.l] : Springer, 2012. - ISBN 9781447144106. - pp. 131-141

Inherited bleeding disorders in pregnancy: rare coagulation factor defects

F. Peyvandi;M. Menegatti;S. Siboni
2012

Abstract

Inherited deficiencies of plasma proteins involved in blood coagulation generally lead to lifelong bleeding disorders. Rare bleeding disorders (RBDs), discussed in this chapter, represent 3–5 % of all the inherited coagulation deficiencies, with prevalence ranging from approximately 1:500,000 to 1:2,000,000 in the general population. Patients affected with bleeding disorders present a wide spectrum of clinical symptoms that vary from a mild or moderate bleeding tendency to severe episodes. Women with inherited bleeding disorders are particularly disadvantaged since, in addition to suffering from general bleeding symptoms, they are also at risk of bleeding complications from regular haemostatic challenges: menstruation, pregnancy and childbirth. Moreover, affected women may experience reduced quality of life caused by limitations in activities and work, and the impact on their reproductive life. Management of women with RBDs is difficult because of considerable inter-individual variation. Furthermore, reliable information on clinical management is scarce, with only a few long-term prospective studies of large cohorts providing evidence to guide diagnosis and treatment.
Women’s health; Rare bleeding disorders; Inherited deficiencies; Bleeding symptoms; Pregnancy; Miscarriage; Post-partum haemorrhage; Laboratory diagnosis
Settore MED/09 - Medicina Interna
2012
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/436928
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