Factor XII deficiency: A rare case report and literature review

Factor XII deficiency: A rare case report and literature review

Khalid E. Ahmed1, Mohamed G. Ali1, Deena Mudawi2, Mohamed Yassin2, Shehab Mohamed2

1Department of internal medicine, Hamad Medical Corporation, Doha, Qatar
2Hematology department, NCCCR, Hamad Medical Corporation, Doha, Qatar

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Background: Factor XII is part of the intrinsic pathway. the activity of this pathway is assessed by measuring the activated partial thromboplastin time (aPTT). Deficiency of Factor XII is rare, often inherited as autosomal recessive, nevertheless autosomal dominant pattern has also been reported. congenital deficiency is associated with mutations in the F12 gene on chromosome 5. Here we report a patient with factor XII deficiency which is considered as a rare inherited coagulation disorder.

Case report: we report the case of a 37 years old gentleman known to have Diabetes mellitus, hypertriglyceridemia, past history of pancreatitis and an episode of gingival bleeding a year prior to this presentation which was attributed to periodontitis. He presented to the emergency room complaining of epigastric pain radiating to the back as well as non-projectile vomiting. He used to drink alcohol but stopped 6 years ago. physical examination showed epigastric tenderness, poor dental hygiene and periodontitis. investigations showed neutrophilic leucocytosis, high lipase and raised triglycerides level of 11.3 mmol/L. He was treated successfully for triglycerides induced pancreatitis with IV insulin, Dextrose 5% infusion and fenofibrates. Isolated prolonged aPTT was detected incidentally which was corrected with mixing study indicating a factor deficiency. Factor assays revealed factor XII deficiency (5.8%) with other factors being within normal ranges. Past records did not show any thrombotic event. No specific treatment was given for Factor XII deficiency.

Conclusion: Factor XII deficiency is associated with an isolated prolonged aPTT without increasing risk of bleeding. patients with this condition should be offered regular follow up because of the increased rate of thromboembolic complications.

Keywords: Factor XII deficiency, hypertriglyceridemia, thrombosis

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How to cite this article:

Khalid E. Ahmed, Mohamed G. Ali, Deena Mudawi, Mohamed Yassin, Shehab Mohamed. Factor XII deficiency: A rare case report and literature review. International Journal of Case Reports, 2020 4:119. DOI: 10.28933/ijcr-2020-02-1505


1. Schmaier AH (2008), the illusive physiologic role of factor XII. J Clin Invest 118: 3006-3009.
2. Colman RW (2003) Factor XII deficiency. NORD guide to rare diseases, Lippincott, Williams & Walkins, Philadelphia, PA, 382-383.
3. Kitchens CS, Alving BM, Kessler CM. Consultative Hemostasis and Thrombosis. Vol. 118. St Louis: Elsevier; 2008. p. 3006.
4. Al-harbi I, Althobaiti AS, Alahmadi EH (2017) Saudi boy with factor XII deficiency. International journal of healthcare sciences 4: 644-646
5. Foncea N, Gomez Beldarrain M, Ruiz Ojeda J, Carrascosa T, Garcia-Monco J (2001) ischemic stroke in a patient with factor XII (Hageman) deficiency. Neurolgia 16:227-228
6. Pham M, Stoll G, Neiswandt B, Bendszus M, Kleinschnitz C (2012) Blood coagulation factor XII- A neglected player in stroke pathophysiology. J MOL Med (Berl) 90: 119-126
7. Pauer H, Burfeind P, Kostering H, Emons G, Hinney B (2003) Factor XII deficiency is strongly associated with primary recurrent abortions. Fertility and Sterility 80:590-594
8. Ozgu-Erdinc AS, Togrul C, Aktulay A, Buyukkagnici U, EYIEGY, et al. (2014) Factor XII levels in Women with Recurrent Pregnancy Loss. Journal of Pregnancy 2014: 1-3.
9. Renné T, Schmaier AH, Nickel KF, Blombäck M, Maas C. In vivo roles of factor XII. Blood. 2012;120(22):4296–4303. doi:10.1182/blood-2012-07-292094

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