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Factor X deficiency

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Description

Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive bleeding following surgery or trauma. Women with factor X deficiency can have heavy or prolonged menstrual bleeding (menorrhagia) or excessive bleeding in childbirth, and may be at increased risk of pregnancy loss (miscarriage). Bleeding into joint spaces (hemarthrosis) occasionally occurs. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.

Frequency

Factor X deficiency occurs in approximately 1 per million individuals worldwide.

Causes

The inherited form of factor X deficiency, known as congenital factor X deficiency, is caused by mutations in the F10 gene, which provides instructions for making a protein called coagulation factor X. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. Some F10 gene mutations that cause factor X deficiency reduce the amount of coagulation factor X in the bloodstream, resulting in a form of the disorder called type I. Other F10 gene mutations result in the production of a coagulation factor X protein with impaired function, leading to type II factor X deficiency. Reduced quantity or function of coagulation factor X prevents blood from clotting normally, causing episodes of abnormal bleeding that can be severe.

A non-inherited form of the disorder, called acquired factor X deficiency, is more common than the congenital form. Acquired factor X deficiency can be caused by other disorders such as severe liver disease or systemic amyloidosis, a condition involving the accumulation of abnormal proteins called amyloids. Acquired factor X deficiency can also be caused by certain drugs such as medicines that prevent clotting, or by a deficiency of vitamin K.

Inheritance

When this condition is caused by mutations in the F10 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Acquired factor X deficiency is not inherited, and generally occurs in individuals with no history of the disorder in their family.

Other Names for This Condition

  • congenital Stuart factor deficiency
  • F10 deficiency
  • Stuart-Prower factor deficiency

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

  • Brown DL, Kouides PA. Diagnosis and treatment of inherited factor X deficiency. Haemophilia. 2008 Nov;14(6):1176-82. doi: 10.1111/j.1365-2516.2008.01856.x. Citation on PubMed
  • Girolami A, Scarparo P, Scandellari R, Allemand E. Congenital factor X deficiencies with a defect only or predominantly in the extrinsic or in the intrinsic system: a critical evaluation. Am J Hematol. 2008 Aug;83(8):668-71. doi: 10.1002/ajh.21207. Review. Citation on PubMed
  • Girolami A, Vettore S, Scarparo P, Lombardi AM. Persistent validity of a classification of congenital factor X defects based on clotting, chromogenic and immunological assays even in the molecular biology era. Haemophilia. 2011 Jan;17(1):17-20. doi: 10.1111/j.1365-2516.2010.02328.x. Citation on PubMed
  • Herrmann FH, Auerswald G, Ruiz-Saez A, Navarrete M, Pollmann H, Lopaciuk S, Batorova A, Wulff K; Greifswald Factor X Deficiency Study Group. Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene. Haemophilia. 2006 Sep;12(5):479-89. Citation on PubMed
  • Karimi M, Menegatti M, Afrasiabi A, Sarikhani S, Peyvandi F. Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency. Haematologica. 2008 Jun;93(6):934-8. doi: 10.3324/haematol.12211. Epub 2008 Apr 9. Citation on PubMed
  • Menegatti M, Peyvandi F. Factor X deficiency. Semin Thromb Hemost. 2009 Jun;35(4):407-15. doi: 10.1055/s-0029-1225763. Epub 2009 Jul 13. Review. Citation on PubMed
  • Uprichard J, Perry DJ. Factor X deficiency. Blood Rev. 2002 Jun;16(2):97-110. Review. Citation on PubMed
From Genetics Home Reference

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