Original Paper

Congenital Combined Defects of Factor VII: A Critical Review
A. Girolami, E. Ruzzon, F. Tezza, E. Allemand, S. Vettore

University of Padua Medical School, Department of Medical and Surgical Sciences, Padua, Italy

Address of Corresponding Author

Acta Haematol 2007;117:51-56 (DOI: 10.1159/000096789)

  Key Words

• Bleeding
• Combined defects
• Congenital deficiencies
• Factor VII
• Hemophilia

  Abstract

Factor VII deficiency is the least rare among uncommon congenital coagulation disorders. The majority of cases are isolated deficiencies. In some cases, FVII deficiency has been found to be associated with the deficiency in another coagulation factor or with non-coagulation-related abnormalities or defects. The evaluation of all published studies on the subject has shown that the FVII defect has been reported in association with FV, FVIII, FIX, FX, FXI and protein C defects. Furthermore, FVII deficiency has been described in association with bilirubin metabolism disorders, mental retardation, microcephaly, epicanthus, cleft palate and persistence of ductus arteriosus. The most interesting association appears to be that with FX. This has been shown to be due to a deletion in part of the long arm of chromosome 13. This arm contains genes coding for both FVII and FX. Interestingly, this combined coagulation defect has been found to be associated with carotid body tumors and several other malformations. Combined defects in blood coagulation often create diagnostic difficulties since results cannot be explained if a single factor deficiency is assumed. For example the combined FVII and FX defect yields a rather peculiar laboratory picture (prolonged prothrombin time and partial thromboplastin time, but normal thrombin time) that could suggest FII or FV or FX single deficiency and not FVII deficiency, indicating the need for specific factor assays whenever data are confusing. Finally, the elevated incidence of mental and skeletal malformations present in these combined defects indicates the need for a careful evaluation of all these patients lest some aspects of the defect are missed.

Copyright © 2007 S. Karger AG, Basel

  Author Contacts

Prof. Antonio Girolami
Department of Medical and Surgical Sciences
Via Ospedale 105
IT-35128 Padua (Italy)
Tel. +39 049 821 3026, Fax +39 049 657 391, E-Mail antonio.girolami@unipd.it

  Article Information

Received: March 23, 2006
Accepted after revision: May 15, 2006
Published online: November 8, 2006
Number of Print Pages : 6
Number of Figures : 0, Number of Tables : 3, Number of References : 35