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Pediatric Factor VII Deficiency Clinical Presentation

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

History

Most severe cases of factor VII (FVII) deficiency are diagnosed during childhood, often during the first 6 months of life. In infancy, the most common bleeds occur in the GI tract or CNS, accounting for 60-70% of bleeds in this age group. Spontaneous hemarthrosis also presents more frequently in children younger than 5 years (occurring in 20% of patients with factor VII deficiency). These children usually have factor VII levels of more than 2%.

The most common bleeding manifestations involve easy bruising and mucosal bleeding, particularly epistaxis or oral mucosal bleeding. Women are over represented among symptomatic patients because of menorrhagia (as high as 60%). Postoperative bleeding is also common, reported in association with 30% of surgical procedures, including procedures for which replacement therapy was administered.

Thrombosis in inherited factor VII deficiency has been reported; most, but not all, cases are associated with the administration of factor VII replacement therapy and/or surgical procedures.

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Physical

The physical manifestations are related to bleeding and include the following:

  • Mucosal bleeding: Epistaxis and bleeding from the oral cavity or GI tract have been observed.
  • Menorrhagia and associated anemia
  • Hemarthrosis: Patients with hemarthrosis have the same clinical presentation as those with hemophilia. Recurrent hemarthroses can lead to joint damage and chronic arthropathy.
  • Bruising, soft tissue hematomas
  • Neurological findings commensurate with CNS bleeding, particularly in infants
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Causes

See Pathophysiology.

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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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  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].

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  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].

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  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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