FXI deficiency may present at any age and even patients with major deficiency may be diagnosed late in life. Neonatal bleeding is not described unless provoked by surgery (e.g. circumcision), although this is variable.
Presentation is most often related to surgery or injury, for example bleeding after dental extraction or tonsillectomy.31 Bleeding may occur after many types of surgery, but is less likely in areas where hemostasis can be secured by ligature or diathermy, and in orthopaedic surgery.32 With the increase in pre-operative coagulation screening in recent years, individuals with no prior bleeding history are diagnosed because of the finding of an isolated prolonged aPTT.
Spontaneous bleeding in the neonatal period is not reported; there have been no reported cases of umbilical bleeding or spontaneous intracranial hemorrhage, which are features of some other rare coagulation disorders, particularly with factors XIII, X or VII deficiency.
Women with FXI deficiency are prone to experience menorrhagia and bleeding at childbirth.33 Women with menorrhagia should be evaluated for a bleeding disorder, including von Willebrand disease and FXI deficiency.33,34 Women may also have heavy menstrual bleeding and other gynaecological problems with increasing age due to increased anovulatory cycles and the development of other gynaecological pathology later in life.35 A review of 27 observational studies in obstetric and gynaecological bleeding including 372 women with FXI deficiency confirmed a wide range of bleeding complications.36 The authors found 5 studies with a total of 44 regional blocks without any complications; some without prophylaxis but the detail in these studies was not sufficient to decide in whom this might be safe.
Rare Coagulation Disorders Resource Room, an extension of the RBDD Registry (eu.rbdd.org), was developed in collaboration with the Indiana Hemophilia & Thrombosis Center (www.innovativehematology.org).
The Resource Room serves as a platform to promote international collaboration to increase knowledge of these very rare disorders and to improve the care of affected individuals. The international RBDD mission, under the leadership of Dr. Peyvandi, will continue to be expanded over time.
The Resource Room thanks all contributing authors of the website articles that have made this valuable information available to the global community of both individuals affected with rare coagulation disorders and their healthcare providers.
