Factor X deficiency

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What is factor X deficiency?

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.

How common is factor X deficiency?

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

What genes are related to factor X deficiency?

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.

How do people inherit factor X deficiency?

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.

Where can I find information about diagnosis or management of factor X deficiency?

These resources address the diagnosis or management of factor X deficiency and may include treatment providers.

You might also find information on the diagnosis or management of factor X deficiency inEducational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about factor X deficiency?

You may find the following resources about factor X deficiency helpful. These materials are written for the general public.

MedlinePlus - Health information (7 links)
Educational resources - Information pages (6 links)
Patient support - For patients and families (4 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Genetic Testing Registry - Repository of genetic test information (1 link)
ClinicalTrials.gov - Linking patients to medical research
PubMed - Recent literature
OMIM - Genetic disorder catalog

What other names do people use for factor X deficiency?

congenital Stuart factor deficiency
F10 deficiency
Stuart-Prower factor deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about factor X deficiency?

Ask the Genetic and Rare Diseases Information Center

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding factor X deficiency?

amyloidosis ; autosomal ; autosomal recessive ; cell ; clotting ; coagulation ; congenital ; deficiency ;gastrointestinal ; gene ; gums ; hematuria ; hemorrhage ; inherited ; injury ; joint ; protein ;pulmonary ; recessive ; surgery ; trauma

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (7 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook