SavedAdd your journal

Journals / Eastern Journal of Medicine / 2011 / Cilt: 16 Sayı: 1

Combined factor V and factor VIII deficiency: the report of two cases

Cengiz DEMİR
Murat ATMACA
Eyüp TAŞDEMİR
Mustafa YILMAZ
İmdat DİLEK
Pages
53–55
Publication Date
2013-01-21
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

These cases make us remember that when a hereditary bleeding disorder is considered in the presence of simultaneous prolongation of PT and aPTT, the possibility of combined FV and FVIII deficiency should be considered, although it is seen very rarely.Key words: Factor V deficiency, Factor VIII deficiency, bleeding

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Combined FV and FVIII deficiency is a rarely seen hereditary coagulation disease.
📊
Key Findings & Data:Factor V levels were 12% and 3% and FVIII levels were 7% and 2%, respectively.
💡
Conclusion & Impact:These cases make us remember that when a hereditary bleeding disorder is considered in the presence of simultaneous prolongation of PT and aPTT, the possibility of combined FV and FVIII deficiency should be considered, although it is seen very rarely.Key words: Factor V deficiency, Factor VIII deficiency, bleeding
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Factor V deficiency · Factor VIII deficiency · bleeding

Abstract

Abstract. Combined FV and FVIII deficiency is a rarely seen hereditary coagulation disease. Here, we presented two cases diagnosed with combined FV and FVIII deficiency. Factor V levels were 12% and 3% and FVIII levels were 7% and 2%, respectively. For both cases, prothrombin time and activated partial thromboplastin time were prolonged. The first case presented with nasal bleeding while the second case was diagnosed with an abdominal hemorrhage. These cases make us remember that when a hereditary bleeding disorder is considered in the presence of simultaneous prolongation of PT and aPTT, the possibility of combined FV and FVIII deficiency should be considered, although it is seen very rarely.Key words: Factor V deficiency, Factor VIII deficiency, bleeding

🔖

Cite This Article

DEMİR, C., ATMACA, M., TAŞDEMİR, E., YILMAZ, M., DİLEK, İ. (2013). Combined factor V and factor VIII deficiency: the report of two cases. Eastern Journal of Medicine, Cilt: 16 Sayı: 1, 53–55. https://ajindex.com/articles/984976

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (11)

  1. Mansouritorgabeh H, Rezaieyazdi Z, Pourfathollah AA, Rezai J, Esamaili H. Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran. Haemophilia 2004; 10: 271-275
  2. Thompson AR. Congenital bleeding disorders from other coagulation protein deficiencies. In: Young NS, Gerson SL, High KA (eds). Clinical Hematology, Mosby Elsevier Philadelphia 2006, pp 855–866
  3. Oeri J, Matter M, Isenschmid H, Hauser F, Koller F. Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers. Bibl Paediatr 1954; 58: 575-588
  4. Seligsohn U, Zivelin A, Inbal A. Inherited deficiencies of coagulation factors II, V, VII, X, XI and XIII and combined deficiencies of factors V and factor VIII and of the vitamin K-dependent factors. In: Lichtman MA, Beutler E, Kıpps T, et al. (eds). Williams Hematology, Mc Graw-Hill Comp New York 2006, pp 1887–1907
  5. Mansouritorgabeh H, Rezaieyazdı Z, Rezai J. Reduced Bone density in individuals with combined factors V and VIII deficiency. Haemophilia 2007; 13: 340-343
  6. Devecioğlu O, Eryilmaz E, Celik D, et al. Circumcision in a combined factor V and factor VIII deficiency using desmopressin (DDAVP). Turk J Pediatr 2002; 44: 146-147
  7. Neerman-Arbez M, Johnson KM, Morris MA, et al. Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. Blood 1999; 93: 2253-2260
  8. Zhang B, McGee B, Yamaoka JS, et al. Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood 2006; 107: 1903-1907
  9. Mohanty D, Ghosh K, Shetty S, et al. Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII. Am J Hematol 2005; 79: 262-266
  10. Seligsohn U, Zivelin A, Zwang E. Combined factor V and factor VIII deficiency among non-Ashkenazi Jews. N Engl J Med 1982; 307: 1191-1195
  11. Peyvandi F, Tuddenham EG, Akhtari AM, Lak M, Mannucci PM. Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII. Br J Haematol 1998; 100: 773-776.