Factor X Clinical Presentation

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Emmanuel C Besa, MD   more...
 
Updated: Feb 2, 2011
 

History

Patients with factor X deficiency may report a family history of a bleeding disorder. Possible symptoms include the following:

  • Severe umbilical cord stump bleeding
  • Prolonged bleeding following circumcision
  • Recurring nose bleeds
  • Easy bruising
  • Menorrhagia
  • Hematuria
  • Spontaneous abortion in the first trimester
  • Postpartum bleeding
  • Excessive bleeding during or following surgery or trauma
  • Pseudotumors
  • Intracranial bleeding
  • Hemarthroses (in severe deficiency)
  • Bleeding in soft tissues, muscles, and gut
Next

Physical

  • The physical examination of a patient with factor X deficiency may reveal petechiae, ecchymoses, or both, which commonly develop in areas of minor trauma. Ambulatory patients may have petechiae or ecchymoses in the ankle area, whereas bedridden patients may have them on the back. Petechiae may develop following blood pressure measurements in the area beneath the cuff. Additionally, patients may ooze from venipuncture sites. Patients with active hemorrhage may also be seen in emergency departments.
  • CNS hematomas may occur in infants and children, including bilateral chronic subdural hematoma.[38]
  • In cases of acquired factor X deficiency, the physical examination may reveal signs of underlying disease, including liver disease, intestinal malabsorption, upper respiratory tract infection, amyloidosis, and leprosy.
Previous
Next

Causes

  • Congenital factor X deficiency is an autosomal recessive disorder.
  • The most common causes of acquired factor X deficiency include liver disease, vitamin K deficiency, vitamin K antagonist use, amyloidosis, and neoplasm.
Previous
Proceed to Differential Diagnoses
 
 
Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Christopher J Steen, MD  Dermatologist, Private Practice

Christopher J Steen, MD is a member of the following medical societies: Alpha Omega Alpha and Sigma Xi

Disclosure: Nothing to disclose.

Pere Gascon, MD, PhD  Professor and Director, Division of Medical Oncology, Institute of Hematology and Medical Oncology, IDIBAPS, University of Barcelona Faculty of Medicine, Spain

Pere Gascon, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, New York Academy of Medicine, New York Academy of Sciences, and Sigma Xi

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. Telfer TP, Denson KW, Wright DR. A new coagulation defect. Br J Haematol. Jul 1956;2(3):308-16. [Medline].

  2. Hougie C, Barrow EM, Graham JB. Stuart clotting defect. I. Segregation of an hereditary hemorrhagic state from the heterogeneous group heretofore called stable factor (SPCA, proconvertin, factor VII) deficiency. J Clin Invest. Mar 1957;36(3):485-96. [Medline]. [Full Text].

  3. Uprichard J, Perry DJ. Factor X deficiency. Blood Rev. Jun 2002;16(2):97-110. [Medline].

  4. Pfeiffer RA, Ott R, Gilgenkrantz S, Alexandre P. Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34). Hum Genet. 1982;62(4):358-60. [Medline].

  5. Pfeiffer RA, Ott R, Taben KD. Clotting factors VII and X as useful markers of terminal deletion of chromosome 13. Hum Genet. 1985;69(2):192. [Medline].

  6. Ott R, Pfeiffer RA. Evidence that activities of coagulation factors VII and X are linked to chromosome 13 (q34). Hum Hered. 1984;34(2):123-6. [Medline].

  7. Furie B, Furie BC. The molecular basis of blood coagulation. Cell. May 20 1988;53(4):505-18. [Medline].

  8. Dewerchin M, Liang Z, Moons L, et al. Blood coagulation factor X deficiency causes partial embryonic lethality and fatal neonatal bleeding in mice. Thromb Haemost. Feb 2000;83(2):185-90. [Medline].

  9. Peyvandi F, Menegatti M, Santagostino E, et al. Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency. Br J Haematol. Jun 2002;117(3):685-92. [Medline].

  10. Morishita E, Yamaguchi K, Asakura H, et al. One missense mutation in the factor X gene causing factor X deficiency--factor X Kanazawa. Int J Hematol. Apr 2001;73(3):390-2. [Medline].

  11. Isshiki I, Favier R, Moriki T, et al. Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: in vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X. Blood Coagul Fibrinolysis. Jan 2005;16(1):9-16. [Medline].

  12. Wang WB, Fu QH, Zhou RF, et al. Molecular characterization of two novel mutations causing factor X deficiency in a Chinese pedigree. Haemophilia. Jan 2005;11(1):31-7. [Medline].

  13. Jayandharan G, Viswabandya A, Baidya S, et al. Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T-->G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin. J Thromb Haemost. Jul 2005;3(7):1482-7. [Medline]. [Full Text].

  14. Shinohara K, Adachi M, Matsui K, et al. A case of factor X (FX) deficiency due to novel mutation V196M, FX Hofu. Int J Hematol. Apr 2008;87(3):256-9. [Medline].

  15. Bereczky Z, Bardos H, Komaromi I, et al. Factor X Debrecen: Gly204Arg mutation in factor X causes the synthesis of a non-secretable protein and severe factor X deficiency. Haematologica. Feb 2008;93(2):299-302. [Medline]. [Full Text].

  16. Al-Hilali A, Wulff K, Abdel-Razeq H, et al. Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly. Thromb Haemost. Apr 2007;97(4):542-5. [Medline].

  17. Todd T, Perry DJ, Hayman E, et al. Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain. Haemophilia. Nov 2006;12(6):621-4. [Medline].

  18. Girolami A, Allemand E, Scandellari R, Lombardi AM, Girolami B. The clinical and laboratory significance of cases of congenital FX deficiency due to defects in the Gla-domain. Hematology. Jun 2009;14(3):177-81. [Medline].

  19. Zama T, Murata M, Watanabe R, et al. A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). Br J Haematol. Sep 1999;106(3):809-11. [Medline].

  20. Bezeaud A, Miyata T, Helley D, et al. Functional consequences of the Ser334-->Pro mutation in a human factor X variant (factor X Marseille). Eur J Biochem. Nov 15 1995;234(1):140-7. [Medline]. [Full Text].

  21. Choufani EB, Sanchorawala V, Ernst T, et al. Acquired factor X deficiency in patients with amyloid light-chain amyloidosis: incidence, bleeding manifestations, and response to high-dose chemotherapy. Blood. Mar 15 2001;97(6):1885-7. [Medline]. [Full Text].

  22. Furie B, Voo L, McAdam KP, Furie BC. Mechanism of factor X deficiency in systemic amyloidosis. N Engl J Med. Apr 2 1981;304(14):827-30. [Medline].

  23. Perez Martinez J, Llamas F, Lopez Montes A, et al. [Primary amyloidosis associated to severe factor X deficiency] [Spanish]. Nefrologia. 2004;24(5):493-8. [Medline].

  24. Schwarzinger I, Stain-Kos M, Bettelheim P, et al. Recurrent, isolated factor X deficiency in myeloma: repeated normalization of factor X levels after cytostatic chemotherapy followed by late treatment failure associated with the development of systemic amyloidosis. Thromb Haemost. Dec 7 1992;68(6):648-51. [Medline].

  25. Peuscher FW, van Aken WG, van Mourik JA, et al. Acquired, transient factor X (Stuart factor) deficiency in patient with mycoplasma pneumonial infection. Scand J Haematol. Oct 1979;23(4):257-64. [Medline].

  26. Ashrani AA, Aysola A, Al-Khatib H, Nichols WL, Key NS. Lupus anticoagulant associated with transient severe factor X deficiency: a report of two patients presenting with major bleeding complications. Br J Haematol. May 2003;121(4):639-42. [Medline].

  27. Gallais V, Bredoux H, le Roux G, Laroche L. Acquired and transient factor X deficiency associated with sodium valproate treatment. Eur J Haematol. Oct 1996;57(4):330. [Medline].

  28. Mulhare PE, Tracy PB, Golden EA, Branda RF, Bovill EG. A case of acquired factor X deficiency with in vivo and in vitro evidence of inhibitor activity directed against factor X. Am J Clin Pathol. Aug 1991;96(2):196-200. [Medline].

  29. Ness PM, Hymas PG, Gesme D, Perkins HA. An unusual factor-X inhibitor in leprosy. Am J Hematol. 1980;8(4):397-402. [Medline].

  30. Matsunaga AT, Shafer FE. An acquired inhibitor to factor X in a pediatric patient with extensive burns. J Pediatr Hematol Oncol. May 1996;18(2):223-6. [Medline].

  31. Israels SJ, Leaker MT. Acquired inhibitors to factors V and X after exposure to topical thrombin: interference with monitoring of low molecular weight heparin and warfarin. J Pediatr. Sep 1997;131(3):480-3. [Medline].

  32. Nora RE, Bell WR, Noe DA, Sholar PW. Novel factor X deficiency. Normal partial thromboplastin time and associated spindle cell thymoma. Am J Med. Jul 1985;79(1):122-6. [Medline].

  33. Caimi MT, Redaelli R, Cattaneo D, et al. Acquired selective factor X deficiency in acute nonlymphocytic leukemia. Am J Hematol. Jan 1991;36(1):65-6. [Medline].

  34. Peyvandi F, Mannucci PM. Rare coagulation disorders. Thromb Haemost. Oct 1999;82(4):1207-14. [Medline].

  35. Citak A, Ucsel R, Karabocuoglu M, Unuvar A, Uzel N. A rare cause of intracranial hemorrhage: factor X deficiency. Pediatr Emerg Care. Oct 2001;17(5):349-50. [Medline].

  36. Young TM, Chitnavis BP, Swallow EB, Arya R, Vadher BD. Intracerebral haemorrhage in an adult due to transient factor X deficiency. J R Soc Med. Jul 2003;96(7):355-6. [Medline]. [Full Text].

  37. Herrmann FH, Navarette M, Salazar-Sanchez L, et al. Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage. J Pediatr. Jan 2005;146(1):128-30. [Medline].

  38. Senturk S, Guzel E, Bayrak AH, Bukte Y, Guzel A. Factor X deficiency presenting with bilateral chronic subdural hematoma. Pediatr Neurosurg. 2010;46(1):54-7. [Medline].

  39. Greipp PR, Kyle RA, Bowie EJ. Factor X deficiency in primary amyloidosis: resolution after splenectomy. N Engl J Med. Nov 8 1979;301(19):1050-1. [Medline].

  40. Rosenstein ED, Itzkowitz SH, Penziner AS, Cohen JI, Mornaghi RA. Resolution of factor X deficiency in primary amyloidosis following splenectomy. Arch Intern Med. Mar 1983;143(3):597-9. [Medline].

  41. Eriksson BI, Quinlan DJ, Eikelboom JW. Novel oral factor xa and thrombin inhibitors in the management of thromboembolism. Annu Rev Med. Feb 18 2011;62:41-57. [Medline].

  42. McMahon C, Smith J, Goonan C, Byrne M, Smith OP. The role of primary prophylactic factor replacement therapy in children with severe factor X deficiency. Br J Haematol. Dec 2002;119(3):789-91. [Medline].

 
Previous
Next
 
 
 
 
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.