Hereditary protein S deficiency and venous thrombo-embolism. A study in three Dutch families.
Protein S, a vitamin K-dependent coagulation factor, is involved in the regulation of the anticoagulant activity of activated protein C. Using an immunoradiometric assay for total protein S in plasma we identified 14 patients (7 male and 7 female) in three unrelated Dutch families as fulfilling the criteria for an isolated protein S deficiency. In 9 patients who were not receiving oral anticoagulant treatment the mean total protein S antigen concentration was 0.50 +/- 0.08 U/ml (+/- S.D.) and the calculated free protein S concentration was 0.15 +/- 0.01 U/ml (+/- S.D.). In the five patients who were on oral anticoagulant treatment the mean total protein S antigen was 0.23 +/- 0.05 U/ml (+/- S.D.). Seven of the 14 patients had a history of venous thromboembolism occurring at a mean age of 25 years and often without an apparent cause. Protein S deficiency is inherited as an autosomal dominant trait.
Broekmans
A W
AW
Bertina
R M
RM
Reinalda-Poot
J
J
Engesser
L
L
Muller
H P
HP
Leeuw
J A
JA
Michiels
J J
JJ
Brommer
E J
EJ
Briët
E
E
D000293:Adolescent; D000328:Adult; D001778:Blood Coagulation Disorders / Q000097:blood / Q000235:genetics*; D001779:Blood Coagulation Factors / Q000378:metabolism; D005170:Factor X / Q000378:metabolism; D005260:Female; D006023:Glycoproteins / Q000172:deficiency*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017293:Protein S; D013923:Thromboembolism / Q000209:etiology*; D013924:Thrombophlebitis / Q000209:etiology
D001779:Blood Coagulation Factors; D006023:Glycoproteins; D017293:Protein S; D005170:Factor X