eMedicine Specialties > Pediatrics: General Medicine > Hematology

Factor VII Deficiency: Differential Diagnoses & Workup

Author: Sara J Israels, MD, FRCPC, Professor of Pediatric Hematology/Oncology, Section Head of Pediatric Hematology/Oncology/BMT, Department of Pediatrics and Child Health, University of Manitoba
Contributor Information and Disclosures

Updated: Dec 11, 2007

Differential Diagnoses

Other Problems to Be Considered

  • Acquired factor VII (FVII) deficiency due to vitamin K deficiency, vitamin K antagonist therapy, or liver disease: In these situations, reduced FVII levels are associated with reduced levels of other vitamin K–dependent factors. Acquired FVII deficiency is far more common than inherited deficiency.
  • Other congenital coagulation factor deficiencies

Workup

Laboratory Studies

  • The prothrombin time (PT) is prolonged in factor VII (FVII) deficiency and the international normalized ratio (INR) is elevated. The activated partial thromboplastin time (aPTT) is within the reference range in isolated FVII deficiency.
  • Specific FVII assays are required for diagnosis.
    • FVII assays are performed by using a TF (thromboplastin)-dependent one-stage clotting assay.
    • The sensitivity of the assay depends on the choice of assay reagents. The less sensitive animal-derived thromboplastins cannot be used to accurately measure levels less than 5%.
    • The more sensitive thromboplastins, usually recombinant human thromboplastin, are preferred for measuring FVII activity in the very low range.
    • When the deficiency is due to mutations that affect formation of the TF/FVIIa/FX complex, the measured FVII levels may significantly vary depending on the type of reagent used (ie, rabbit vs human thromboplastin).
  • Genetic studies, including genotyping, may be warranted for counseling and prenatal diagnosis.
  • Factor assays in family members are indicated to identify other affected individuals.
  • Although FVII levels are statistically lower in "bleeders" than in "nonbleeders," they may not predict bleeding risk in individual patients.

Imaging Studies

  • Appropriate imaging studies may be useful in the evaluation of suspected bleeding. For instance, CT scanning or MRI of the brain is indicated for suspected CNS hemorrhage.

More on Factor VII Deficiency

Overview: Factor VII Deficiency
Differential Diagnoses & Workup: Factor VII Deficiency
Treatment & Medication: Factor VII Deficiency
Follow-up: Factor VII Deficiency
References
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References

  1. Mariani G, Herrmann FH, Dolce A, et al. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb Haemost. Mar 2005;93(3):481-7. [Medline].

  2. Peyvandi F, Mannucci PM. Rare coagulation disorders. Thromb Haemost. Oct 1999;82(4):1207-14. [Medline].

  3. Di Paola J, Nugent D, Young G. Current therapy for rare factor deficiencies. Haemophilia. Jan 2001;7 Suppl 1:16-22. [Medline].

  4. Giansily-Blaizot M, Schved JF. Potential predictors of bleeding risk in inherited factorVII deficiency. Clinical, biological and molecular criteria. Thromb Haemost. Nov 2005;94(5):901-6. [Medline].

  5. Mariani G, Dolce A, Marchetti G, Bernardi F. Clinical picture and management of congenital factor VII deficiency. Haemophilia. Oct 2004;10 Suppl 4:180-3. [Medline].

  6. Mariani G, Lapecorella M, Dolce A. Steps towards an effective treatment strategy in congenital factor VII deficiency. Semin Hematol. Jan 2006;43(1 Suppl 1):S42-7. [Medline].

  7. Perry DJ. Factor VII Deficiency. Br J Haematol. Sep 2002;118(3):689-700. [Medline].

  8. Tuddenham EG, Pemberton S, Cooper DN. Inherited factor VII deficiency: genetics and molecular pathology. Thromb Haemost. Jul 1995;74(1):313-21. [Medline].

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Further Reading

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Keywords

inherited factor VII deficiency, FVII deficiency, vitamin K–dependent coagulation factors, hemorrhagic disorder, activated FVII, FVIIa, menorrhagia, hemarthrosis, thrombosis, epistaxis, anemia, hematoma

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Contributor Information and Disclosures

Author

Sara J Israels, MD, FRCPC, Professor of Pediatric Hematology/Oncology, Section Head of Pediatric Hematology/Oncology/BMT, Department of Pediatrics and Child Health, University of Manitoba
Sara J Israels, MD, FRCPC is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, Canadian Medical Association, Children's Oncology Group, International Society on Thrombosis and Haemostasis, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Medical Editor

Gary R Jones, MD, Associate Medical Director, Clinical Development, Berlex Laboratories
Gary R Jones, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, and Western Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

James L Harper, MD, Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Assistant Clinical Professor, Department of Pediatrics, Creighton University; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center
James L Harper, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society
Disclosure: Nothing to disclose.

CME Editor

Helen SL Chan, MBBS, FRCP(C), FAAP, Senior Scientist, Research Institute; Professor, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Canada
Helen SL Chan, MBBS, FRCP(C), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Society of Clinical Oncology, American Society of Hematology, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA, Executive Director, Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, DC; Professor of Medicine, Oncology, and Pediatrics, Georgetown University
Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Clinical Oncology, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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