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Factor V Quebec revisited
CM Janeway, GE Rivard, PB Tracy and KG Mann
Department of Biochemistry, University of Vermont, College of Medicine,
Burlington 05404-0068, USA.
Factor V Quebec has been described as a bleeding disorder that exhibits an
autosomal dominant inheritance pattern and presents severe bleeding after
trauma. Two members of a fourth-generation (IV.13 and IV.15) Canadian
family have been studied in detail and are the subject of this report.
Their clinical presentations and histories have been described previously
(Tracy et al: J Clin Invest 74:1221, 1984). Persistent abnormalities
include mild thrombocytopenia and defective platelet factor V. Plasma
factor V is present at near normal concentration and is fully functional.
Thus, the bleeding diathesis appears to reflect the absence of platelet
factor V activity. The recent report (Hayward et al: Blood 84:110a, 1994
[suppl, abstr]) of multimerin deficiency in these individuals led us to
reevaluate these patients. Western blot analyses of platelet lysates
developed with a variety of monoclonal antibodies show that the
alpha-granule proteins, fibrinogen, von Willebrand factor, factor V and
osteonectin are decreased in concentration and significantly degraded in
the platelets of these patients. Thrombospondin, while not degraded, is
substantially decreased. In contrast, platelet factor 4 and
beta-thromboglobulin do not appear to be affected. These observations
suggest that the alpha- granules are correctly assembled but the contents
are subsequently subjected to proteolytic degradation. The results indicate
that factor V Quebec disorder is probably associated with a generalized
defect that leads to degradation of most proteins of the alpha-granules.
Volume 87,
Issue 9,
pp. 3571-3578,
05/01/1996
Copyright © 1996 by The American Society of Hematology
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