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Advances in understanding the bleeding diathesis in factor V deficiency
Author(s) -
Duckers Connie,
Simioni Paolo,
Rosing Jan,
Castoldi Elisabetta
Publication year - 2009
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2009.07708.x
Subject(s) - bleeding diathesis , clotting factor , platelet , coagulation , medicine , context (archaeology) , factor v , immunology , coagulopathy , factor ix , thrombin , phenotype , hemorrhagic diathesis , biology , genetics , thrombosis , gene , paleontology
Summary Coagulation factor V (FV), present in plasma and platelets, is an indispensable clotting factor, as demonstrated by the uniform lethality of FV knock‐out mice. Surprisingly, however, severe FV deficiency is rarely fatal in humans. In fact, although several cases of life‐threatening intracranial haemorrhage have been reported in FV‐deficient newborns, many patients with undetectable FV levels experience only mild to moderate bleeding and do not require routine prophylaxis. While the reasons for this variable phenotypic expression are largely unknown, several observations from different laboratories indicate platelets as crucial players in FV deficiency. Moreover, we have recently shown that plasma levels of tissue factor pathway inhibitor are considerably reduced in FV‐deficient plasma, which results in enhanced thrombin generation especially at very low FV levels (<2%). The present review discusses and integrates these findings in the context of the biology of FV and the clinical features of FV deficiency.