Factor X deficiency

What causes Factor X deficiency?

There are two forms of Factor X deficiency, an inherited form and a non- inherited form. The inherited form is caused by a genetic change (mutation) in the F10 gene that affects how the factor X protein is made. Factor X protein is important for helping blood clot properly. Mutations in F10 lead to lower amounts of factor X protein or a factor X protein that doesn’t work correctly.

The non-inherited form of Factor X deficiency is caused by other health conditions, including liver disease, amyloidosis, vitamin K deficiency, and others.

Last updated on 05-01-20

How is Factor X deficiency diagnosed?

Factor X deficiency is diagnosed based on the symptoms and through a series of tests that measure how fast the blood clots. Tests may include a partial prothrombin time (PTT), prothrombin time (PT), and a Russell viper venom test. Additional testing includes tests to measure the amount and activity of the factor X protein. Genetic testing for changes in the F10 gene may also be helpful for diagnosis.

Last updated on 05-01-20

How is Factor X deficiency inherited in families?

The inherited form of factor X deficiency is passed down in families in an autosomal recessive pattern. Everyone inherits two copies of each gene. To inherit factor X deficiency, a person must have a genetic change (mutation) in both copies of the F10 gene in each cell. There is nothing either parent can do, before or during a pregnancy, to cause a child to have this.

People with autosomal recessive disorders inherit one copy of the gene with a mutation from each of their parents. In most cases, each parent has a mutation in only one copy of the gene and is known as a carrier. Carriers of an autosomal recessive disorder typically do not have any signs or symptoms (they are unaffected). When two carriers of factor X deficiency have children, each child has a:

• 25% (1 in 4) chance to have factor X deficiency
• 50% (1 in 2) chance to be a carrier like each parent
• 25% (1 in 4) chance to be unaffected and not be a carrier

Last updated on 05-01-20

What is the long-term outlook for people with Factor X deficiency?

With treatment, people with both the mild and more severe forms of factor X deficiency have a good outlook.

Last updated on 05-01-20

How many people have Factor X deficiency?

The inherited form of Factor X deficiency occurs in about 1 in 500,000 to 1 in 1,000,000 people worldwide.

Last updated on 05-01-20

How might Factor X deficiency be treated?

Factor X deficiency is treated when a bleeding episode occurs. Treatment includes giving clotting factors or plasma through a vein (intravenously). Patients can also be given factor X protein directly through a vein. People with factor X deficiency due to vitamin K deficiency may be given additional vitamin K.

Last updated on 05-01-20

Name: National Hemophilia Foundation 7 Penn Plaza, Suite 1204
New York, NY, 10001 , United States
Phone: +1-212-328-3700 Toll Free: 1-800-42-HANDI Fax : +1-212-328-3777 Email: handi@hemophilia.org Url: https://www.hemophilia.org/
Name: World Federation of Hemophilia 1425 Rene Levesque Blvd. W. Bureau 1200
Montreal, Quebec H3G 1T7
Canada
Phone: +1-514-875-7944 Fax : +1-514-875-8916 Email: wfh@wfh.org Url: https://www.wfh.org/en/
Schwartz, RA. Factor X Deficiency Medscape Reference. Updated Mar 23, 2018; Reference Link Factor X deficiency Online Mendelian Inheritance in Man (OMIM). Updated May, 2017; Reference Link Austin SK, Kavakli K, Norton M, Peyvandi F and Shapiro A. Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency Haemophilia. 2016; 22. 419-425. Reference Link Girolami A, Cosi E, Sambado L, Girolami B, Randi ML. Complex history of the discovery and characterization of congenital factor X deficiency Semin Thromb Hemost. 2015; 41(4). 359-365. Reference Link

Note, these links are external searches against the National Laboratory of Medicine's drug database. You may need to adjust the search if there are no results found.

Drug Name Generic Name
Coagadex Coagulation factor X (human)

Connect with other users with Factor X deficiency on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App