[Familial deficiency of protein S associated with thrombophilia].
Protein S (SP) is a vitamin K-dependent plasma protein which acts as a cofactor of activated C protein in the inactivation of the factors Va and VIIIa; in addition, it enhances fibrinolysis by increasing the affinity of the enzyme for phospholipid surfaces. The congenital deficiency of SP is an autosomal dominant inherited trait, associated with a high risk of development of thrombotic phenomena at a relatively early age (young adults). We report a Spanish family which carried a congenital deficiency of SP associated with thrombotic complications; for its diagnosis we used the immunological quantification of the levels of free and total SP as well as the evaluation of the immunoelectrophoretic behavior of the inhibitor.
Velasco
F
F
Rojas
R
R
Torres
A
A
D000293:Adolescent; D000328:Adult; D001797:Blood Protein Electrophoresis; D002648:Child; D002675:Child, Preschool; D005260:Female; D006023:Glycoproteins / Q000172:deficiency*; D006801:Humans; D007122:Immunoelectrophoresis; D008297:Male; D010375:Pedigree; D017293:Protein S; D013927:Thrombosis / Q000097:blood / Q000209:etiology / Q000235:genetics*
D006023:Glycoproteins; D017293:Protein S
Déficit familiar de proteína S asociado a trombofilia.