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The clinical spectrum of heterozygous protein C deficiency in a large New
England kindred
EG Bovill, KA Bauer, JD Dickerman, P Callas and B West
Specialized Center of Research in Thrombosis, University of Vermont College
of Medicine, Burlington.
A family with a high incidence of venous thromboembolism was investigated.
We performed medical evaluations on 184 of the 411 surviving members of the
pedigree, which allowed assignment of individuals into positive, equivocal,
or negative categories with respect to their clinical histories of
thrombosis. Subjects with antigenic levels of protein C less than 66% of a
normal plasma pool were classified as having protein C deficiency. Positive
thrombotic histories were found in 13 of the 46 family members determined
to be protein-C deficient and in only five of their 138 biochemically
unaffected relatives. Statistical analysis of the association between
thromboembolic disease and protein-C deficiency was strongly positive chi 2
= 24.95, P less than .0001 with n = 184), indicating that heterozygous
protein-C deficiency is an important independent risk factor for the
development of thrombotic manifestations in this pedigree. However, the
absence of thromboembolic manifestations in many of the protein-C deficient
family members to date indicates that other, as yet undefined, factors must
play an important role in the clinical expression of this disorder.
Volume 73,
Issue 3,
pp. 712-717,
02/15/1989
Copyright © 1989 by The American Society of Hematology
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