Factor X deficiency

Title

Other Names:

Factor X deficiency, congenital; Stuart factor deficiency, congenital; Stuart-Prower factor deficiency; Factor X deficiency, congenital; Stuart factor deficiency, congenital; Stuart-Prower factor deficiency; F10 deficiency See More

Categories:

Blood Diseases; Congenital and Genetic Diseases

Summary Summary

Factor X deficiency is a rare disorder that affects the blood's ability to clot. The severity of the disorder and the associated signs and symptoms can vary significantly from person to person. Common features of factor X deficiency may include easy bruising, frequent nosebleeds, bleeding gums, blood in the urine, and prolonged bleeding after minor injuries. Women with factor X deficiency may also experience heavy menstrual bleeding and may have an increased risk for first trimester miscarriages.^[1]^[2] Acquired (non-inherited) factor X deficiency, which is the most common form of the disorder, generally occurs in people with no family history of the disorder. Acquired factor X deficiency has a variety of causes including liver disease, vitamin K deficiency, exposure to certain medications that affect clotting, and certain types of cancer. The inherited form of factor X deficiency (also called congenital factor X deficiency) is caused by changes (mutations) in the F10 gene and is inherited in an autosomal recessive manner.^[3] Factor X deficiency can be diagnosed based on the symptoms and through laboratory tests to measure clotting time. The goal of treatment is to control bleeding through intravenous (IV) infusions of plasma or concentrates of clotting factors.^[1]^[2]

Last updated: 1/22/2019

Symptoms Symptoms

The symptoms of Factor X deficiency can be different for each person and can start at any age.^[4] Symptoms may include frequent nosebleeds, bruising easily, bleeding under the skin, and increased bleeding in the gums. Women with Factor X deficiency may have extra heavy bleeding during their periods and during childbirth, and are at increased risk for pregnancy complications. In more severe forms of Factor X deficiency, symptoms may include bleeding into joints and into the brain (intracranial hemorrhage).^[1]^[5]

Last updated: 1/22/2019

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the musculature	Muscular abnormality	0003011
Autosomal recessive inheritance		0000007
Epistaxis	Bloody nose Frequent nosebleeds Nose bleeding Nosebleed [ more ]	0000421
Gingival bleeding	Bleeding gums	0000225
Intracranial hemorrhage	Bleeding within the skull	0002170
Intramuscular hematoma		0012233
Joint hemorrhage	Bleeding within a joint Hemarthrosis [ more ]	0005261
Menorrhagia	Abnormally heavy bleeding during menstruation	0000132
Prolonged partial thromboplastin time		0003645
Prolonged prothrombin time		0008151
Reduced factor X activity		0008321
Variable expressivity		0003828

Showing of 12 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 6/1/2019

Cause Cause

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.^[1]^[3]

The non-inherited form of Factor X deficiency is caused by other health conditions, including liver disease, amyloidosis, vitamin K deficiency, and others.^[1]

Last updated: 1/22/2019

Inheritance Inheritance

The inherited form of factor X deficiency is passed down in families in an autosomal recessive pattern.^[1]^[2] 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: 1/22/2019

Diagnosis Diagnosis

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.^[1]^[2] 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: 1/22/2019

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

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.^[5] People with factor X deficiency due to vitamin K deficiency may be given additional vitamin K.^[2]

Last updated: 1/22/2019

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Human factor X (Brand name: Coagadex) - Manufactured by Bio Products Laboratory Limited
FDA-approved indication: September 2018, human factor X (Coagadex) received expanded approval for the treatment of hereditary Factor X deficiency for on-demand treatment and control of bleeding episodes and perioperative management of bleeding in patients with mild and moderate hereditary Factor X deficiency including adults and children (11 yrs and younger). It was originally approved for the treatment of adults and adolescents (aged 12 years and above) with mild hereditary Factor X deficiency for on-demand treatment and control of bleeding episodes and perioperative management of bleeding in October 2015.
National Library of Medicine Drug Information Portal

Prognosis Prognosis

With treatment, people with both the mild and more severe forms of factor X deficiency have a good outlook.^[1]

Last updated: 1/22/2019

Statistics Statistics

The inherited form of Factor X deficiency occurs in about 1 in 500,000 to 1 in 1,000,000 people worldwide.^[3]^[5]

Last updated: 1/22/2019

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include deficiencies of factors II, V, VII, VIII, IX, XI, XIII or acquired deficiencies in FX (amyloidosis) (see these terms). Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Factor X deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

National Hemophilia Foundation
7 Penn Plaza, Suite 1204
New York, NY 10001
Toll-free: 1-800-42-HANDI
Telephone: +1-212-328-3700
Fax: +1-212-328-3777
E-mail: handi@hemophilia.org
Website: https://www.hemophilia.org/
World Federation of Hemophilia
1425 Rene Levesque Blvd. W.
Bureau 1200
Montreal, Quebec H3G 1T7
Canada
Telephone: +1-514-875-7944
Fax: +1-514-875-8916
E-mail: wfh@wfh.org
Website: https://www.wfh.org/en/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Factor X deficiency. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Factor X deficiency. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Factor X deficiency. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/condition/factor-x-deficiency.
Schwartz, RA. Factor X Deficiency. Medscape Reference. Updated Mar 23, 2018; http://emedicine.medscape.com/article/209867-overview.
Factor X deficiency. Online Mendelian Inheritance in Man (OMIM). Updated May, 2017; https://www.omim.org/entry/227600.
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. https://www.ncbi.nlm.nih.gov/pubmed/25875733.
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. https://www.ncbi.nlm.nih.gov/pubmed/27197801.