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factor V deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

factor V deficiency

MONDO:0020586

Overview

A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.

Patient Orgs1 organizations · National Bleeding Disorders Foundation

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Heterozygosity for the Factor V Leiden Variant

Venous thromboembolism (VTE) is the primary clinical manifestation of factor V Leiden thrombophilia . The most common site for VTE is the legs, but upper-extremity, cerebral, and superficial venous thrombosis may also occur. The relative risk for VTE is increased approximately three- to eightfold in factor V Leiden variant heterozygotes . Lower relative risks (four- to fivefold) were reported in two large meta-analyses . Despite the increase in relative risk, the overall annual incidence of a first VTE is low in heterozygotes, approximately 0.5% . The reported adjusted hazard ratio (HR) for VTE in heterozygotes compared with controls was 2.7 (95% confidence interval [CI] 1.8-3.8) .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Factor V Leiden thrombophilia should be suspected in individuals with the following clinical, laboratory, and family history findings:

Clinical findings. A history of one or recurrent venous thromboembolism (VTE) manifesting as deep vein thrombosis (DVT) or pulmonary embolism (PE), especially at a young age and in the absence of strong risk factors for VTE
Laboratory findings. Low activated protein C (APC) resistance on APC resistance qualitative and quantitative assays

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for factor V deficiency. The disease remains an area of unmet medical need.

Gene therapy approaches for factor V deficiency have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To assess the risk for venous thromboembolism (VTE) in an individual found to have a factor V Leiden variant, the following are recommended:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Individuals receiving long-term anticoagulation require periodic reevaluation of their clinical course to confirm that the benefits of anticoagulation continue to outweigh the risk of bleeding. Factor V Leiden heterozygotes who do not require long-term anticoagulation may benefit from evaluation prior to exposure to circumstantial risk factors such as surgery or pregnancy.

Source: GeneReviews — "Factor V Leiden Thrombophilia"

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for factor V deficiency.

47 publications have been identified in PubMed for factor V deficiency. Research spans Case Report / Case Series (62%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Patient case studies	29	62%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 7:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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National Bleeding Disorders Foundation

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Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

Questions for Your Care Team

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Kisho

factor V deficiency

Overview

Clinical Presentation

Clinical Guidance

Heterozygosity for the Factor V Leiden Variant

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of VTE in Adults

Clinical Trials

Recent Publications

Latest News & Developments

Factor II and Factor V Deficiencies: Current Management, Care Gaps and Call to Action for Therapeutic Advances.

factor V deficiency

Overview

Clinical Presentation

Clinical Guidance

Heterozygosity for the Factor V Leiden Variant

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of VTE in Adults

Clinical Trials

Recent Publications

Latest News & Developments

Factor II and Factor V Deficiencies: Current Management, Care Gaps and Call to Action for Therapeutic Advances.