Factor XII deficiency: case series on clinical manifestations and treatment approach

Jamhuri, Nur Syazwani and Ismail, Ilham and Pem, Tshering and Tumian, Nor Rafeah and Mahadi, Mahrunissa and Cheong, Xiong Kee and Chong, Guang Yong and Rodin, Nor Saaidah Kamal and Mohamad Azudin, Azhreen Fuad and Wan Hanafi, Hany Haqimi (2025) Factor XII deficiency: case series on clinical manifestations and treatment approach. In: European Hematology Association Congress 2025, Milan, Italy.

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Abstract

Factor XII deficiency or also known as Hageman factor deficiency is a rare inherited autosomal recessive coagulation disorder, attributed to mutation in F12 gene on chromosome 5. Affected individuals are mostly asymptomatic and diagnosed incidentally following pre-procedural assessment with finding of prolonged activated partial thromboplastin time (aPTT).However, some may still present with symptoms of bleeding or paradoxical thrombosis. Here we describe 3 cases with different clinical presentations and respective managements. Methods Case I 67-year-old lady with suspicion of periampullary cancer, was incidentally noted to have isolated prolonged aPTT pre-procedural for endoscopic retrograde cholangio-pancreatography (ERCP) and subsequent Whipple’s procedure. She had nohistory of bleeding diathesis and thrombosis. aPTT mixing study with 2-hour incubation was performed and showed correction. Intrinsic coagulation factors level and inhibitor test showed factor XII deficiency (less than 1%,) with non-inhibitor. Both procedures performed without hemostatic complications, not requiring supportive blood product transfusion. Post-operatively with transient risk factor for venous thromboembolism (VTE), she received anticoagulant prophylaxis. Case2 22-year-old gravida 2 para 1 presented with 1st trimester miscarriage at 10 weeks during antenatal booking. She was diagnosed with factor XII deficiency at 15-years-old when she presented with gum bleeding, menorrhagia and prolonged aPTT. aPTT mixing study with 2-hour incubation was corrected and intrinsic factors level revealed low factor XII of 24.7%without inhibitor. Her 1st pregnancy uneventful and she was given VTE prophylaxis antenatally and up to 6 weeks post-partum as per routine prophylaxis. The evacuation of retained product of conception (ERPOC) procedure for the second was uncomplicated with adequate hemostasis. Case III 35-year-old lady, diagnosed with tuberculous meningitis complicated with paraplegia, noted to have prolonged aPTT prior to lumbar puncture procedure. Subsequent evaluation revealed factor XII deficiency (less than 1%) with no inhibitor. She progressed to develop provoked lower limb deep vein thrombosis and pulmonary embolism and was treated with anticoagulation for 6 months in view of the provoking factor (paraplegia). Summary/Conclusion Factor XII deficiency is rare, mostly asymptomatic and incidentally detected. There are limited contradictory data suggesting its relation to bleeding with severely low factor level as well as paradoxical thrombosis and miscarriage. The exact mechanism is not well understood. Nevertheless, as depicted by the above cases, blood product transfusion intended for factor XII correction is not justified as bleeding risk is low despite prolonged aPTT. VTE prophylaxis and treatment should be based on available recommendations for general and obstetric populations, considering the associated provoking risk factors.

Item Type:	Proceeding Paper (Other)
Subjects:	R Medicine > RC Internal medicine > RC633 Specialties of Internal Medicines- Diseases of The Blood and Blood-forming Organs. Hematologic Diseases
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button):	Kulliyyah of Medicine > Department of Internal Medicine
Depositing User:	Asst Prof Nur Syazwani Jamhuri
Date Deposited:	29 Jul 2025 10:44
Last Modified:	29 Jul 2025 10:44
URI:	http://irep.iium.edu.my/id/eprint/122348

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