Disease Profile

Factor X deficiency

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of Onset

All ages

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ICD-10

D68.2

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Factor X deficiency, congenital; Stuart factor deficiency, congenital; Stuart-Prower factor deficiency;

Categories

Blood Diseases; Congenital and Genetic Diseases

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 (noninherited) 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]

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]

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.

Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Prolonged prothrombin time
0008151
Reduced factor X activity
0008321
80%-99% of people have these symptoms
Prolonged bleeding after dental extraction
0006298
Prolonged bleeding after surgery
Excessive bleeding during surgery
Protracted bleeding after surgery

[ more ]

0004846
30%-79% of people have these symptoms
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed

[ more ]

0000421
Gingival bleeding
Bleeding gums
0000225
5%-29% of people have these symptoms
Abnormal umbilical stump bleeding
0011884
Antepartum hemorrhage
0025328
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Hematuria
Blood in urine
0000790
Intramuscular hematoma
0012233
Joint hemorrhage
Bleeding within a joint
Hemarthrosis

[ more ]

0005261
Menorrhagia
Abnormally heavy bleeding during menstruation
0000132
Oral cavity bleeding
Bleeding from mouth
0030140
Post-partum hemorrhage
Bleeding post-delivery
0011891
Spontaneous hematomas
0007420
1%-4% of people have these symptoms
Hemoperitoneum
0011854
Subarachnoid hemorrhage
0002138
Percent of people who have these symptoms is not available through HPO
Abnormality of the musculature
Muscular abnormality
0003011
Autosomal recessive inheritance
0000007
Intracranial hemorrhage
Bleeding within the skull
0002170
Prolonged partial thromboplastin time
0003645
Variable expressivity
0003828

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]

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.

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

    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]

    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

    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

      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

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

        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.

          References

          1. Factor X deficiency. Genetics Home Reference. January 2015; https://ghr.nlm.nih.gov/condition/factor-x-deficiency.
          2. Schwartz, RA. Factor X Deficiency. Medscape Reference. Updated Mar 23, 2018; https://emedicine.medscape.com/article/209867-overview.
          3. Factor X deficiency. Online Mendelian Inheritance in Man (OMIM). Updated May, 2017; https://www.omim.org/entry/227600.
          4. 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.
          5. 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.