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Pediatric Factor VII Deficiency Workup

  • Author: Helge Dirk Hartung, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
 
Updated: Oct 06, 2015
 

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 factor VII deficiency.

Specific factor VII assays are required for diagnosis.

  • Factor VII assays are performed by using a tissue factor (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 factor VII activity in the very low range.
  • When the deficiency is due to mutations that affect formation of the TF/factor VIIa/FX complex, the measured factor VII 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 factor VII levels are statistically lower in "bleeders" than in "nonbleeders," they may not predict bleeding risk in individual patients.

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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.

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Contributor Information and Disclosures
Author

Helge Dirk Hartung, MD Attending Physician, Division of Hematology, The Children's Hospital of Philadelphia

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; 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 Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Acknowledgements

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.

References
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  2. Acharya SS. Rare bleeding disorders in children: identification and primary care management. Pediatrics. 2013 Nov. 132 (5):882-92. [Medline].

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

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

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

  6. Mariani G, Bernardi F. Factor VII Deficiency. Semin Thromb Hemost. 2009 Jun. 35(4):400-6. [Medline].

  7. Levi M, Levy JH, Andersen HF, Truloff D. Safety of recombinant activated factor VII in randomized clinical trials. N Engl J Med. 2010 Nov 4. 363(19):1791-800. [Medline].

  8. Todd T, J Perry D. A review of long-term prophylaxis in the rare inherited coagulation factor deficiencies. Haemophilia. 2009 Nov 11. [Medline].

  9. Kim SH, Park YS, Kwon KH, Lee JH, Kim KC, Yoo MC. Surgery in patients with congenital factor VII deficiency: A single center experience. Korean J Hematol. 2012 Dec. 47(4):281-5. [Medline]. [Full Text].

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

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

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

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

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

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Intrinsic and extrinsic pathways of coagulation. Factor VII/tissue factor complex activates factor IX and factor X. Factor IXa along with factor VIIIa results in formation of more factor Xa. Factor Xa along with factor Va converts prothrombin to thrombin.
 
 
 
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