Factor V Clinical Presentation

  • Author: Olga Kozyreva, MD; Chief Editor: Emmanuel C Besa, MD   more...
 
Updated: Jan 10, 2012
 

History

  • Symptoms of factor V deficiency include the following:
    • Bleeding into the skin
    • Excessive bruising with minor injuries
    • Nosebleeds
    • Bleeding gums
    • Excessive menstrual bleeding and prolonged or excessive loss of blood with surgery or trauma
    • Bleeding in mucosal tracts (gastrointestinal, urinary)
    • Hemarthrosis and flexion contracture
    • Bleeding during delivery and postpartum
    • Intracerebral hemorrhages
    • Pulmonary hemorrhage
  • The severity of bleeding symptoms is only partially related to the degree of factor V deficiency in plasma from immeasurable plasma levels.
Next

Physical

The most common physical findings of factor V deficiency are ecchymoses, bleeding from mucosal surfaces, and pallor secondary to blood loss. Petechiae are uncommon because platelet numbers and function are not affected.

Previous
Next

Causes

Factor V deficiency is caused by a large number of genetic abnormalities. The deficiency is a rare bleeding disorder whose genetic bases have been characterized in only a limited number of cases. The inheritance of factor V deficiency is autosomal recessive, with varying expressivity in the heterozygote; however, other modes of inheritance have been described. Heterozygotes have lowered levels of factor V but probably never bleed abnormally.

Consanguinity has been observed in families with factor V deficiency, related to its autosomal recessive inheritance. Heterozygous deficiency states are generally unrecognized because of a lack of significant clotting time prolongation or bleeding risk.

Previous
Proceed to Differential Diagnoses
 
 
Contributor Information and Disclosures
Author

Olga Kozyreva, MD  Attending Physician, Division of Hematology-Oncology, St Elizabeth's Medical Center; Assistant Professor, Tufts University School of Medicine

Disclosure: Nothing to disclose.

Coauthor(s)

Sarah K May, MD  Consulting Staff, Department of Hematology-Oncology, Caritas Carney Hospital, Commonwealth Hematology-Oncology PC

Disclosure: Nothing to disclose.

Karl J D'Silva  MD, Assistant Clinical Professor of Medicine, Department of Hematology/Oncology, Lahey Clinic, Sophia Gordon Cancer Center

Karl J D'Silva is a member of the following medical societies: Massachusetts Medical Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Paul Schick, MD  Emeritus Professor, Department of Internal Medicine, Jefferson Medical College of Thomas Jefferson University; Research Professor, Department of Internal Medicine, Drexel University College of Medicine; Adjunct Professor of Medicine, Lankenau Hospital

Paul Schick, MD is a member of the following medical societies: American College of Physicians, American Heart Association, American Society of Hematology, International Society on Thrombosis and Haemostasis, and New York Academy of Sciences

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Ronald A Sacher, MB, BCh, MD, FRCPC  Professor, Internal Medicine and Pathology, Director, Hoxworth Blood Center, University of Cincinnati Academic Health Center

Ronald A Sacher, MB, BCh, MD, FRCPC is a member of the following medical societies: American Association for the Advancement of Science, American Association of Blood Banks, American Clinical and Climatological Association, American Society for Clinical Pathology, American Society of Hematology, College of American Pathologists, International Society of Blood Transfusion, International Society on Thrombosis and Haemostasis, and Royal College of Physicians and Surgeons of Canada

Disclosure: Glaxo Smith Kline Honoraria Speaking and teaching; Talecris Honoraria Board membership

Rebecca J Schmidt, DO, FACP, FASN  Professor of Medicine, Section Chief, Department of Medicine, Section of Nephrology, West Virginia University School of Medicine

Rebecca J Schmidt, DO, FACP, FASN is a member of the following medical societies: American College of Physicians, American Medical Association, American Society of Nephrology, International Society of Nephrology, National Kidney Foundation, Renal Physicians Association, and West Virginia State Medical Association

Disclosure: Renal Ventures Ownership interest Other

Chief Editor

Emmanuel C Besa, MD  Professor, Department of Medicine, Division of Hematologic Malignancies, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Clinical Oncology, American Society of Hematology, and New York Academy of Sciences

Disclosure: Nothing to disclose.

References

  1. Owren P. Parahaemophilia: haemorrhagic diathesis due to absence of a previously unknown clotting factor. Lancet. 1947;Vol I:446-8.

  2. Duckers C, Simioni P, Rosing J, Castoldi E. Advances in understanding the bleeding diathesis in factor V deficiency. Br J Haematol. Jun 2009;146(1):17-26. [Medline].

  3. Asselta R, Peyvandi F. Factor V deficiency. Semin Thromb Hemost. Jun 2009;35(4):382-9. [Medline].

  4. Cramer TJ, Gale AJ. The anticoagulant function of coagulation factor V. Thromb Haemost. Nov 24 2011;107(1):[Medline].

  5. Ni Ainle F, Preston RJ, Jenkins PV, et al. Protamine sulfate down-regulates thrombin generation by inhibiting factor V activation. Blood. Aug 20 2009;114(8):1658-65. [Medline].

  6. Hamedani AG, Cole JW, Cheng Y, Sparks MJ, O'Connell JR, Stine OC, et al. Factor V Leiden and Ischemic Stroke Risk: The Genetics of Early Onset Stroke (GEOS) Study. J Stroke Cerebrovasc Dis. Nov 17 2011;[Medline].

  7. Delev D, Pavlova A, Heinz S, Seifried E, Oldenburg J. Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. Haemophilia. Sep 2009;15(5):1143-53. [Medline].

  8. Fu YX, Kaufman R, Rudolph AE, Collum SE, Blinder MA. Multimodality therapy of an acquired factor V inhibitor. Am J Hematol. Apr 1996;51(4):315-8. [Medline].

  9. Spreafico M, Peyvandi F. Combined factor V and factor VIII deficiency. Semin Thromb Hemost. Jun 2009;35(4):390-9. [Medline].

  10. Esmon CT. Basic mechanisms and pathogenesis of venous thrombosis. Blood Rev. Sep 2009;23(5):225-9. [Medline].

  11. Girolami A, Scandellari R, Lombardi AM, Girolami B, Bortoletto E, Zanon E. Pregnancy and oral contraceptives in factor V deficiency: a study of 22 patients (five homozygotes and 17 heterozygotes) and review of the literature. Haemophilia. Jan 2005;11(1):26-30. [Medline].

  12. Ichikawa H. Successful total gastrectomy of gastric cancer in a congenital factor V deficient patient [in Japanese]. Nippon Ronen Igakkai Zasshi. Mar 2000;37(3):245-9. [Medline].

  13. Lak M, Sharifian R, Peyvandi F, Mannucci PM. Symptoms of inherited factor V deficiency in 35 Iranian patients. Br J Haematol. Dec 1998;103(4):1067-9. [Medline].

  14. Lee GR, Foerster J, Greer J, et al, eds. Wintrobe's Clinical Hematology. Vol 2. 10th ed. Baltimore, Md: Lippincott, Williams & Wilkins; 1999:1710-12.

  15. Mann KG, Kalafatis M. Factor V: a combination of Dr Jekyll and Mr Hyde. Blood. Jan 1 2003;101(1):20-30. [Medline].

  16. Mitterstieler G, Muller W, Geir W. Congenital factor V deficiency. A family study. Scand J Haematol. Jul 1978;21(1):9-13. [Medline].

  17. Nowak-Gottl U, Weiler H, Hernandez I, et al. Fibrinogen alpha and gamma genes and factor VLeiden in children with thromboembolism: results from 2 family-based association studies. Blood. Aug 27 2009;114(9):1947-53. [Medline].

  18. Sacco S, Dragani A, Davi G, Carolei A. Four recurrent intracerebral haemorrhages. Cerebrovasc Dis. 2003;16(4):435-6. [Medline].

  19. Satoh H, Yamashita YT, Ohtsuka M, Sekizawa K, Hasegawa Y. Pulmonary hemorrhage in factor V deficiency. Can Respir J. Jul-Aug 1999;6(4):320. [Medline].

  20. Song JW, Um MR, Ahn HS, Hong CY. A case of congenital factor V deficiency. J Korean Med Sci. Sep 1987;2(3):179-82. [Medline].

  21. Suehisa E, Kawasaki T, Toku M, Hidaka Y. Low level of factor V is associated with development of deep-vein thrombosis in Japanese patients. Thromb Res. Jun 2 2009;[Medline].

  22. Totan M, Albayrak D. Intracranial haemorrhage due to factor V deficiency. Acta Paediatr. Mar 1999;88(3):342-3. [Medline].

  23. Tracy PB, Mann KG. Abnormal formation of the prothrombinase complex: factor V deficiency and related disorders. Hum Pathol. Feb 1987;18(2):162-9. [Medline].

  24. Yokoyama T, Tatemoto Y, Osaki T. Hemostatic treatment after tooth extraction in a patient with factor V deficiency. Oral Dis. Sep 1997;3(3):196-8. [Medline].

  25. Yotsumoto G, Masuda H, Toyokawa K, Iguro Y, Kinjo T, Sakata R. Off-pump coronary artery bypass grafting in a patient with congenital factor V deficiency: report of a case. Surg Today. 2005;35(2):142-4. [Medline].

  26. Zehnder JL, Hiraki DD, Jones CD, Gross N, Grumet FC. Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. Thromb Haemost. Sep 1999;82(3):1097-9. [Medline].

 
Previous
Next
 
Antithrombin sites of action.
Cell surface-directed hemostasis. Initially, a small amount of thrombin is generated on the surface of the tissue factor (TF)–bearing cell. Following amplification, the second burst generates a larger amount of thrombin, leading to fibrin (clot) formation. Adapted from Hoffman and Monroe, Thromb Haemost 2001, 85(6): 958-65.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.