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

Year 2011, Volume: 16 Issue: 1, 53 - 55, 21.01.2013

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

References

  • 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.
Year 2011, Volume: 16 Issue: 1, 53 - 55, 21.01.2013

Abstract

References

  • 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.
There are 11 citations in total.

Details

Primary Language English
Journal Section Case Report
Authors

Cengiz Demir This is me

Murat Atmaca This is me

Eyüp Taşdemir This is me

Mustafa Yılmaz This is me

İmdat Dilek This is me

Publication Date January 21, 2013
Published in Issue Year 2011 Volume: 16 Issue: 1

Cite

APA Demir, C., Atmaca, M., Taşdemir, E., Yılmaz, M., et al. (2013). Combined factor V and factor VIII deficiency: the report of two cases. EASTERN JOURNAL OF MEDICINE, 16(1), 53-55.
AMA Demir C, Atmaca M, Taşdemir E, Yılmaz M, Dilek İ. Combined factor V and factor VIII deficiency: the report of two cases. EASTERN JOURNAL OF MEDICINE. March 2013;16(1):53-55.
Chicago Demir, Cengiz, Murat Atmaca, Eyüp Taşdemir, Mustafa Yılmaz, and İmdat Dilek. “Combined Factor V and Factor VIII Deficiency: The Report of Two Cases”. EASTERN JOURNAL OF MEDICINE 16, no. 1 (March 2013): 53-55.
EndNote Demir C, Atmaca M, Taşdemir E, Yılmaz M, Dilek İ (March 1, 2013) Combined factor V and factor VIII deficiency: the report of two cases. EASTERN JOURNAL OF MEDICINE 16 1 53–55.
IEEE C. Demir, M. Atmaca, E. Taşdemir, M. Yılmaz, and İ. Dilek, “Combined factor V and factor VIII deficiency: the report of two cases”, EASTERN JOURNAL OF MEDICINE, vol. 16, no. 1, pp. 53–55, 2013.
ISNAD Demir, Cengiz et al. “Combined Factor V and Factor VIII Deficiency: The Report of Two Cases”. EASTERN JOURNAL OF MEDICINE 16/1 (March 2013), 53-55.
JAMA Demir C, Atmaca M, Taşdemir E, Yılmaz M, Dilek İ. Combined factor V and factor VIII deficiency: the report of two cases. EASTERN JOURNAL OF MEDICINE. 2013;16:53–55.
MLA Demir, Cengiz et al. “Combined Factor V and Factor VIII Deficiency: The Report of Two Cases”. EASTERN JOURNAL OF MEDICINE, vol. 16, no. 1, 2013, pp. 53-55.
Vancouver Demir C, Atmaca M, Taşdemir E, Yılmaz M, Dilek İ. Combined factor V and factor VIII deficiency: the report of two cases. EASTERN JOURNAL OF MEDICINE. 2013;16(1):53-5.