Factor V deficiency

Title

Categories:

Blood Diseases; Congenital and Genetic Diseases

Summary Summary

Factor V deficiency is an inherited bleeding disorder that prevents blood clots from forming properly.^[1] This disorder is caused by mutations in the F5 gene, which leads to a deficiency of a protein called coagulation factor V.^[2] The reduced amount of factor V may lead to nosebleeds, easy bruising, and excessive bleeding following surgery or trauma.^[1]^[2] This condition is inherited in an autosomal recessive manner.^[3]^[2] Treatment includes fresh blood plasma or fresh frozen plasma infusions during bleeding episodes.^[1]^[3]

This condition should not be confused with Factor V Leiden thrombophilia, a genetic risk factor for blood clots.

Last updated: 7/5/2019

Symptoms Symptoms

The symptoms of factor V deficiency may include:^[1]^[3]^[2]

Bleeding into the skin
Excessive bruising
Nosebleeds
Bleeding of the gums
Excessive menstrual bleeding
Prolonged or excessive loss of blood with surgery, trauma, or following childbirth
Umbilical stump bleeding
In severe cases, bleeding into the skull, lungs, or gastrointestinal tract

Last updated: 4/17/2017

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
30%-79% of people have these symptoms
Epistaxis	Bloody nose Frequent nosebleeds Nose bleed Nose bleeding Nosebleed [ more ]	0000421
Joint hemorrhage	Bleeding within a joint Hemarthrosis [ more ]	0005261
5%-29% of people have these symptoms
Bruising susceptibility	Bruise easily Easy bruisability Easy bruising [ more ]	0000978
Gingival bleeding	Bleeding gums	0000225
Hematuria	Blood in urine	0000790
Menorrhagia	Abnormally heavy bleeding during menstruation	0000132
Oral cavity bleeding	Bleeding from mouth	0030140
Persistent bleeding after trauma	Excessive bleeding after minor trauma Frequent bleeding with trauma Prolonged bleeding after minor trauma [ more ]	0001934
Post-partum hemorrhage	Bleeding post-delivery	0011891
Prolonged bleeding after dental extraction		0006298
Prolonged bleeding after surgery	Excessive bleeding during surgery Protracted bleeding after surgery [ more ]	0004846
Prolonged bleeding following circumcision		0030137
Spontaneous hematomas		0007420
1%-4% of people have these symptoms
Hematochezia	Rectal bleeding	0002573
Hemoptysis	Coughing up blood	0002105
Intracranial hemorrhage	Bleeding within the skull	0002170
Metrorrhagia	Abnormal uterus bleeding	0100608
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Prolonged bleeding time		0003010
Prolonged partial thromboplastin time		0003645
Prolonged prothrombin time		0008151
Prolonged whole-blood clotting time		0005542
Reduced coagulation factor V activity		0003225

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

Last updated: 8/1/2020

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Factor V deficiency is caused by mutations in the F5 gene. These mutations prevent the production of a functional factor V protein, or decrease the amount of the protein in the bloodstream. Mutations are present in both copies of the F5 gene in each cell, which prevents blood from clotting normally.^[4]

Last updated: 4/17/2017

Inheritance Inheritance

Factor V deficiency is inherited in an autosomal recessive manner.^[3]^[2] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

25% chance to be affected
50% chance to be an unaffected carrier like each parent
25% chance to be unaffected and not a carrier

Last updated: 4/17/2017

Treatment Treatment

Resources state that fresh plasma or fresh frozen plasma infusions will correct the deficiency temporarily and may be administered daily during a bleeding episode or after surgery.^[1]^[3] During severe bleeding episodes, platelet concentrates may be needed.^[3] Individuals with factor V deficiency should discuss treatment options with their primary health care provider and a hematologist.

Last updated: 4/17/2017

Management Guidelines

The National Hemophilia Foundation Web site posts the guidelines for management of pregnancy and delivery of women with bleeding disorders and carriers of hemophilia A and B. Click on the link to view the guidelines.

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 factor VIII deficiency, and combined deficiency of factor V and factor VIII (see these terms). Visit the Orphanet disease page for more information.

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

Canadian Hemophilia Society
301-666 Sherbrooke Street West
Montreal, QC H3A IE7
Canada
Toll-free: 1-800-668-2686
Telephone: +1-514-848-0503
Fax: +1-514-848-9661
E-mail: chs@hemophilia.ca
Website: https://www.hemophilia.ca
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/

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 contains information on Factor V 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.
The National Hemophilia Foundation has an information page on factor V deficiency.

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 V deficiency. Click on the link to view a sample search on this topic.

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GARD Answers GARD Answers

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My sister has been told she has Factor 5 deficiency which is probably inherited. What are the implications for the other siblings and are there any other likely causes. See answer
I would like information on factor V deficiency, including treatment and the location of treatment centers.
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