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[Hereditary protein S deficiency and recurrent venous thrombosis. Study of a family]
A Bezeaud1, L Venisse, J Conard
1Service central d'Immunologie et Hématologie, Hôpital Beaujon, Clichy.
Hereditary protein S deficiency was detected in three subjects belonging to three generations of one single family. The deficiency was heterozygous and was associated with recurrent venous thromboembolism in two of the subjects affected. Plasma analysis by two-dimensional immunoelectrophoresis showed that the protein S fraction bound to C4b-binding protein was quantitatively normal, whereas the free protein S fraction was much reduced. Since it has been well established that only free protein S intervenes in the regulation of blood coagulation, any quantitative deficiency, even moderate, in protein S resulting in redistribution of its free and bound fractions will have major functional repercussions.
Hereditary protein S deficiency was detected in three subjects belonging to three generations of one single family. The deficiency was heterozygous and was associated with recurrent venous thromboembolism in two of the subjects affected. Plasma analysis by two-dimensional immunoelectrophoresis showed that the protein S fraction bound to C4b-binding protein was quantitatively normal, whereas the free protein S fraction was much reduced. Since it has been well established that only free protein S intervenes in the regulation of blood coagulation, any quantitative deficiency, even moderate, in protein S resulting in redistribution of its free and bound fractions will have major functional repercussions.