Hereditary protein S deficiency in a large New Jersey kindred.
OBJECTIVE
Protein S is a vitamin K-dependent anticoagulant protein that serves as a cofactor for activated protein C. Deficiency of protein S has been associated with recurrent thrombotic events. To characterize better the risks of thrombosis in protein S deficiency, we studied 62 members in a large kindred.


METHODS
All members were evaluated by a thorough clinical history. Plasma samples were assayed for total protein S antigen and protein S activity. Upper and lower extremity venous duplex examinations were performed in the majority of adult members.


RESULTS
Twenty-six (40%) of the 62 family members were classified as deficient on the basis of either low total protein S antigen levels or low protein S functional activity. Five members deficient in protein S had 16 venous thrombotic events. In all members the onset of thrombotic events occurred after 19 years of age, with a tendency for recurrence. Three lower extremity deep venous thromboses that had been occult previously were first diagnosed on surveillance duplex scanning. Only one member whose protein S level was not deficient had a single episode of superficial thrombophlebitis.


CONCLUSIONS
Our findings in this large kindred confirm an autosomal-dominant inheritance pattern. Thrombotic events occurred after the age of 19 years in affected individuals and tended to be recurrent. The diagnosis of protein S deficiency is based on functional and immunologic plasma assays. In this study venous duplex scanning proved to be a useful diagnostic adjuvant.
Wilkerson
D K
DK
Division of Vascular Surgery, UMDNJ-Robert Wood Johnson Medical School, New Brunswick 08903-0019.
Burrell
L
L
Cisar
L A
LA
Graham
A M
AM
Kim
H
H
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009515:New Jersey; D010375:Pedigree; D017293:Protein S / Q000097:blood / Q000502:physiology; D018455:Protein S Deficiency; D012008:Recurrence; D012307:Risk Factors; D013924:Thrombophlebitis / Q000097:blood / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D014463:Ultrasonography
D017293:Protein S