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Familial dysfunction of protein S.

P M Mannucci¹, C Valsecchi, A Krachmalnicoff

¹A. Bianchi Bonomi Hemophilia and Thrombosis Center, University of Milano, Italy.

Thrombosis and Haemostasis

|September 29, 1989

Summary

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A newly identified protein S defect causes low cofactor activity for activated protein C, despite normal antigen levels. This genetic defect, linked to thrombosis, is inherited in an autosomal dominant pattern.

Area of Science:

Biochemistry
Genetics
Hematology

Background:

Protein S is a crucial vitamin K-dependent anticoagulant protein.
It functions as a cofactor for activated protein C (APC), enhancing its anticoagulant activity.
Deficiencies in Protein S are associated with an increased risk of venous thromboembolism.

Observation:

A proband presented with juvenile deep-vein thrombosis while using oral contraceptives.
Laboratory analysis revealed low Protein S cofactor activity for APC, but normal total and free Protein S antigen levels.
Two-dimensional immunoelectrophoresis showed normal distribution of Protein S between free and C4b-binding protein-complexed forms.

Findings:

A novel defect in protein S function was identified, characterized by impaired cofactor activity for APC.

Keywords:

Biology Blood Coagulation Effects Contraception Contraceptive Methods--side effects Developed Countries Diseases Embolism Europe Family Planning Hematological Effects Hemic System Hereditary Diseases Italy Mediterranean Countries Oral Contraceptives--side effects Physiology Serum Protein Effects Southern Europe Thromboembolism Thrombosis Vascular Diseases

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This defect was transmitted in an autosomal dominant manner from an asymptomatic mother to affected relatives.

The proband's thrombosis occurred in the context of oral contraceptive use, suggesting a potential trigger.

Implications:

The findings suggest the existence of dysfunctional protein S variants that retain normal antigen levels and binding properties.
This defect represents a previously unreported cause of inherited thrombophilia.
Further research is needed to elucidate the specific molecular mechanisms underlying this dysfunctional protein S and its clinical significance, particularly in relation to hormonal factors.