Inherited deficiency of protein S in a Japanese family with recurrent
venous thrombosis: a study of three generations
T Kamiya, T Sugihara, K Ogata, H Saito, K Suzuki, J Nishioka, S Hashimoto and K Yamagata
We found a new thrombophilic tendency in a family with protein S
deficiency. The propositus, a 38-year-old Japanese man, is an offspring of
consanguineous marriage and suffered from recurrent episodes of
thromboembolism. Hemostatic studies, including platelet counts, platelet
aggregation, assays of coagulation factors, and plasminogen activity were
all within normal limits. The levels of antithrombin III, alpha
2-macroglobulin, protein C, and protein C inhibitor were also normal.
However, functional protein S activity in plasma was markedly decreased
(9%) in the propositus. The family study revealed that the reduced levels
of functional protein S, less than 5% to 29% of normal (normal range: mean
+/- 2 SD of 15 normal adults were 44 to 180%), were found in 11 members of
this family over three generations. Six of 11 members had severe protein S
deficiency (less than 5%), whereas five had partial deficiency. Four of
eight adults with protein S deficiency had recurrent episodes of
thrombosis. Immunologic levels of protein S antigen were variable in this
family and did not correlate closely with the functional levels. These
results suggest that the recurrent thrombotic disease in this family
appears to be associated with an inherited deficiency of functional protein
S.
Volume 67,
Issue 2,
pp. 406-410,
02/01/1986
Copyright © 1986 by The American Society of Hematology
