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coagulation protein disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

coagulation protein disease

MONDO:0002242

Also known as:coagulation factor deficiencycoagulation factor deficiency syndrome

Find Clinical TrialsTrials

Overview

Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.

Clinical Trials2 registered · 2 recruiting

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 coagulation protein disease. The disease remains an area of unmet medical need.

Gene therapy approaches for coagulation protein disease 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.

2 clinical trials registered, 2 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE4. Research is primarily sponsored by academic and government institutions.

375 publications have been identified in PubMed for coagulation protein disease. Kisho has analyzed 191 by research type. Research spans Basic Science / Preclinical (38%), Review / Meta-Analysis (30%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Laboratory research	72

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

coagulation protein disease

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

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of VTE in Adults

Clinical Trials

Recent Publications

coagulation protein disease

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

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