Pediatric Factor VII Deficiency Clinical Presentation
- Author: Helge Dirk Hartung, MD; Chief Editor: Max J Coppes, MD, PhD, MBA more...
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.
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
Mandhyan R, Tiwari A, Cherian G. Congenital factor VII deficiency. Br J Anaesth. 2010 Feb. 104(2):267-8. [Medline].
Acharya SS. Rare bleeding disorders in children: identification and primary care management. Pediatrics. 2013 Nov. 132 (5):882-92. [Medline].
Tuddenham EG, Pemberton S, Cooper DN. Inherited factor VII deficiency: genetics and molecular pathology. Thromb Haemost. 1995 Jul. 74(1):313-21. [Medline].
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].
Peyvandi F, Mannucci PM. Rare coagulation disorders. Thromb Haemost. 1999 Oct. 82(4):1207-14. [Medline].
Mariani G, Bernardi F. Factor VII Deficiency. Semin Thromb Hemost. 2009 Jun. 35(4):400-6. [Medline].
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].
Todd T, J Perry D. A review of long-term prophylaxis in the rare inherited coagulation factor deficiencies. Haemophilia. 2009 Nov 11. [Medline].
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].
Di Paola J, Nugent D, Young G. Current therapy for rare factor deficiencies. Haemophilia. 2001 Jan. 7 Suppl 1:16-22. [Medline].
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].
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].
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].
Perry DJ. Factor VII Deficiency. Br J Haematol. 2002 Sep. 118(3):689-700. [Medline].