DOI: 10.12890/2025_005928

Hereditary combined deficiency of vitamin K–dependent clotting factors presenting as postoperative haemorrhage in a Syrian adolescent: a likely VKCFD type 2 phenotype

Authors

  • Mahmoud Alhamadeh Alswij Department of Haematology, Al-Mouwasat University Hospital, Damascus, Syrian Arabic Republic; Department of Internal Medicine, Al-Mouwasat University Hospital, Damascus, Syrian Arabic Republic 0000-0003-0607-0889
  • Mais Musleh Department of Haematology, Al-Mouwasat University Hospital, Damascus, Syrian Arabic Republic 0000-0002-2148-2921
  • Abdulhalim Mohamed Alyousef Department of Hematology, National University Hospital, Faculty of Medicine, Damascus, Syrian Arabic Republic
  • Nizar Alsheekh Ahmad Al Horani Hospital, Hama, Syrian Arabic Republic
  • Abdullatif AlStem Department of Haematology, Al-Mouwasat University Hospital, Damascus, Syrian Arabic Republic
  • Hadi Ataya Department of Haematology, Al-Mouwasat University Hospital, Damascus, Syrian Arabic Republic

m.swij@damascusuniversity.edu.sy

Keywords

Vitamin K-dependent clotting factors deficiency, factor V, factor VIII, factor X, factor IX, factor VII

Abstract

Hereditary combined deficiency of vitamin K–dependent clotting factors (VKCFD) is a rare autosomal recessive disorder characterized by reduced activity of factors II, VII, IX, and X despite normal vitamin K levels. We report a 17-year-old Syrian female who presented with impaired wound healing and haemorrhagic discharge following cervical rib surgery. Laboratory evaluation revealed markedly prolonged prothrombin time and activated partial thromboplastin time both corrected on mixing studies, and selective deficiency of vitamin K–dependent factors. Vitamin K levels were normal, excluding acquired causes. The patient experienced recurrent bleeding episodes including haematuria and epistaxis, successfully managed with plasma and recombinant activated factor VII. The absence of skeletal abnormalities, mild bleeding phenotype, and delayed onset suggest a VKCFD type 2 presentation. This case highlights the importance of early recognition, differentiation from acquired coagulopathies, and targeted replacement therapy to prevent life threatening haemorrhage.

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References

  1. Johnson CA, Chung KS, McGrath KM, Bean PE, Roberts HR. Characterization of a variant prothrombin in a patient congenitally deficient in factors II, VII, IX and X. Br J Haematol 1980;44:461-469. doi: 10.1111/j.1365-2141.1980.tb05916.x
  2. Chung KS, Bezeaud A, Goldsmith JC, McMillan CW, Ménaché D, Roberts HR. Congenital deficiency of blood clotting factors II, VII, IX, and X. Blood 1979;53:776-787
  3. Oldenburg J, von Brederlow B, Fregin A, Rost S, Wolz W, Eberl W, et al. Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex. Thromb Haemost 2000;84:937-941.
  4. McMahon MJ, James AH. Combined deficiency of factors II, VII, IX, and X (Borgschulte-Grigsby deficiency) in pregnancy. Obstet Gynecol 2001;97:808-809. doi: 10.1016/s0029-7844(00)01214-x
  5. Leissinger CA, Blatt PM, Hoots WK, Ewenstein B. Role of prothrombin complex concentrates in reversing warfarin anticoagulation: a review of the literature. Am J Hematol 2008;83:137-143. doi: 10.1002/ajh.21046
  6. Napolitano M, Mariani G, Lapecorella M. Hereditary combined deficiency of the vitamin K-dependent clotting factors. Orphanet J Rare Dis 2010;5:21. doi: 10.1186/1750-1172-5-21
  7. Ghosh S, Kraus K, Biswas A, Müller J, Buhl AL, Forin F, et al. GGCX mutations show different responses to vitamin K thereby determining the severity of the hemorrhagic phenotype in VKCFD1 patients. J Thromb Haemost 2021;19:1412-1424. doi: 10.1111/jth.15238
  8. Trossaert M, Chamouard V, Biron-Andreani C, Casini A, De Mazancourt P, De Raucourt E, et al. Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders. Eur J Haematol 2023;110:584-601. doi: 10.1111/ejh.13941
  9. Araki S, Shirahata A. Vitamin K Deficiency Bleeding in Infancy. Nutrients 2020;12:780. doi: 10.3390/nu12030780
  10. Gallop PM, Lian JB, Hauschka PV. Carboxylated calcium-binding proteins and vitamin K. N Engl J Med 1980;302:1460-1466. doi: 10.1056/NEJM198006263022608

Published

2025-11-10

Issue

Vol. 12 No. 12 (2025)

Categories

How to Cite

1.
Alhamadeh Alswij M, Musleh M, Mohamed Alyousef A, Alsheekh Ahmad N, AlStem A, Ataya H. Hereditary combined deficiency of vitamin K–dependent clotting factors presenting as postoperative haemorrhage in a Syrian adolescent: a likely VKCFD type 2 phenotype. EJCRIM [Internet]. 2025 Nov. 10 [cited 2026 Nov. 3];12(12). Available from: https://ejcrim.com/index.php/ejcrim/article/view/5928

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