Rare Oncology News

Disease Profile

Factor V 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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Categories

Blood Diseases; Congenital and Genetic Diseases

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.

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

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
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

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]

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.

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.

    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 contains information on Factor V deficiency. This website is maintained by the National Library of Medicine.
      • 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.

          References

          1. Gersten T. Factor V deficiency. MedlinePlus. February 1, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/000550.htm.
          2. Factor V deficiency. Genetics Home Reference (GHR). May 2013; https://ghr.nlm.nih.gov/condition/factor-v-deficiency.
          3. Factor V. National Hemophilia Foundation. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-V. Accessed 4/17/2017.
          4. F5 gene. Genetics Home Reference (GHR). May 2013; https://ghr.nlm.nih.gov/gene/F5.

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