Hereditary factor XII deficiency in an adult patient: A case report

Abstract

Factor XII deficiency is a rare autosomal recessive health condition usually discovered incidentally during routine coagulation screening before surgery after investigating a prolongation of the activated partial thromboplastin time. This is a case of a 29-year-old man from Saudi Arabia who was selectively admitted to the surgical department to treat a perianal fistula and found incidentally prolonged activated partial thromboplastin time and factor XII deficiency. Examination of the skin revealed no bruising, petechiae, or ecchymosis. Systemic examination was normal. Laboratory examination showed an activated partial thromboplastin time > 160 s (normal between 27 and 38), which was repeated twice with low factor XII < 5.7% (73–121). Other factors and the work of hemostasis were within the normal range. Surgery was delayed at the request of the patient. One year later, the patient was admitted to the clinic after surgery without bleeding and did not require factor correction before or after surgery. However, treating factor XII–deficient patients specifically for preoperative preparation is challenging. Therefore, this rare case should be recorded and reported the same way as a number of previously rarely reported cases.

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

“…13 Further summary of the latest available literature reported a number of cases of incidental prolonged aPTT due to FXII deficiency. 5,7 This suggests the possibility of a thrombotic mechanism rather than FXII deficiency bleeding, as previously highlighted in some studies. 7,13,14…”

“…13 Further summary of the latest available literature reported a number of cases of incidental prolonged aPTT due to FXII deficiency. 5,7 This suggests the possibility of a thrombotic mechanism rather than FXII deficiency bleeding, as previously highlighted in some studies. 7,13,14 Similar to FXII, FXI contributes to the intrinsic pathway and promotes the formation of both thrombin and the kallikreinkinin system, composed of the zymogens pre kallikrein, high molecular weight kininogen cofactor, and FXII.…”

“…7 The halflife of FXI and FXII is 50 and 60 hours, respectively. 3,5 Further evidence suggests rare occurrences of combined factor deficiencies where coagulation factors were combined with other (eg, factor VIII and X) or bleeding factors. However, a combined deficiency of FXI and FXII has not been previously reported in Saudi Arabia or the Arab coun tries.…”

“…1-3 Thus, factor XI deficiency (FXI) and factor XII deficiency (FXII) are rare genetic blood disorders, occurring separately in 1 in 1 000 000 people. 4,5 Factor XI or hemophilia C, also known as Rosenthal’s disease, is a rare bleeding disorder caused by a mutation in the F11 gene responsible for blood clotting. Factor XI deficiency 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. Additional evidence suggests that prevalence is 2 to 20 times higher likely due to the wide range of bleeding risk associated with FXI deficiency, which is, however, less explored.…”