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“Familial Multiple Coagulation Factor Deficiencies of FXI and FXII in an Asymptomatic Saudi Woman”

Al-Ansari, Rehab Y.; Alruwaili, Atallah Fadel; Alqahtani, Khalid Mohammed; Al-Harbi, Amal Faed; Woodman, Alexander

“Familial Multiple Coagulation Factor Deficiencies of FXI and FXII in an Asymptomatic Saudi Woman” Thumbnail


Rehab Y. Al-Ansari

Atallah Fadel Alruwaili

Khalid Mohammed Alqahtani

Amal Faed Al-Harbi

Alexander Woodman


Factor XI deficiency (FXI) is the third most common coagulation factor deficiency after hemophilia A and B, ie, in the hierarchy after factors VIII and IX, taking into account von Willebrand’s factor deficiency, as bleeding disorders are higher than in hemophilia C. Factor XII deficiency (FXII) is a congenital condition, inherited in the vast majority of cases in an autosomal recessive manner, more often associated with thromboembolic complications. A combination of both factor deficiencies has been found very rarely, and it can be familial multiple coagulation factor deficiency (FMCFD). This study reports the case of a 39-year-old woman from Saudi Arabia who had the combination of FXI and FXII deficiencies, known to be on treatment for hypothyroidism and was referred to a hematology clinic with an incidental finding of prolonged activated partial thromboplastin time (aPTT). Although there was no history of bleeding tendency, her siblings had a family history of an unknown type of bleeding disorder. On physical examination, the patient did not show any bruising, petechiae, or ecchymosis. The aPTT was 69 seconds (27-38) with normal use of other hemostatic agents and was corrected after a 50:50 mixing study. Intrinsic coagulation factors were evaluated, and they revealed severe FXI and moderate FXII deficiencies. Due to a strong family history, the patient was diagnosed with FMCFD. In conclusion, familial combined multiple clotting factor deficiency (FCMFD) is a rare condition that requires attention and reporting. The management strategy in such cases has not been well studied, especially in the long-term symptomatic patient with severe but asymptomatic combined FXI and FXII deficiencies, which is an area for review and further study.


Al-Ansari, R. Y., Alruwaili, A. F., Alqahtani, K. M., Al-Harbi, A. F., & Woodman, A. (in press). “Familial Multiple Coagulation Factor Deficiencies of FXI and FXII in an Asymptomatic Saudi Woman”. Journal of Investigative Medicine High Impact Case Reports, 11, 23247096231199413.

Journal Article Type Article
Acceptance Date Aug 19, 2023
Online Publication Date Sep 13, 2023
Deposit Date Sep 18, 2023
Publicly Available Date Sep 18, 2023
Journal Journal of Investigative Medicine High Impact Case Reports
Print ISSN 2324-7096
Publisher SAGE Publications
Peer Reviewed Peer Reviewed
Volume 11
Pages 23247096231199413
Keywords factor deficiency, bleeding, factor XI, factor XII, coagulation


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