Factor V deficiency

Title

Categories:

Blood Diseases; Congenital and Genetic Diseases

Summary Summary

Factor V deficiency is an inherited blood disorder that causes abnormal blood clotting (coagulation).^[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]

Last updated: 4/17/2017

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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Autosomal recessive inheritance	-
Bruising susceptibility	-
Epistaxis	-
Menorrhagia	-
Prolonged bleeding time	-
Prolonged partial thromboplastin time	-
Prolonged prothrombin time	-
Prolonged whole-blood clotting time	-
Reduced factor V activity	-

Last updated: 9/1/2017

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.

Do you have updated information on this condition? Let us know.

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
400-1255 University St
Montreal, QC H3B 3B6
Canada
Toll-free: 800-668-2686
Telephone: 514-848-0503
Fax: 514 848-9661
E-mail: chs@hemophilia.ca
Website: http://www.hemophilia.ca
National Hemophilia Foundation
7 Penn Plaza, Suite 1204
New York, NY 10001
Toll-free: 800-42-HANDI
Telephone: 212-328-3700
Fax: 212-328-3799
E-mail: handi@hemophilia.org
Website: http://www.hemophilia.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
World Federation of Hemophilia
July 19, 2016

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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