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Familial dysfunction of protein S.
- Source :
-
Thrombosis and haemostasis [Thromb Haemost] 1989 Sep 29; Vol. 62 (2), pp. 763-6. - Publication Year :
- 1989
-
Abstract
- We describe a previously unreported defect of protein S characterized by low levels of cofactor activity for activated protein C contrasting with low normal levels of total and free protein S antigen. The distribution of protein S between the free form and the form complexed with the complement component C4b-binding protein was normal on two-dimensional immunoelectrophoresis. The proband developed juvenile deep-vein thrombosis while taking oral contraceptives. Her defect was transmitted in an autosomal dominant fashion from her asymptomatic mother. Other relatives carrying the same laboratory abnormality (mother, maternal uncle, two sisters and one brother) were also asymptomatic. We postulate that the defect is due to a dysfunctional protein S present in plasma in normal amounts and with normal proportions of the free and complexed forms of the protein.
- Subjects :
- Adult
Contraceptives, Oral adverse effects
Enzyme-Linked Immunosorbent Assay
Female
Genes, Dominant
Glycoproteins genetics
Heparin therapeutic use
Humans
Immunoassay
Immunoelectrophoresis, Two-Dimensional
Male
Protein C metabolism
Protein S
Thrombophlebitis drug therapy
Thrombophlebitis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0340-6245
- Volume :
- 62
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Thrombosis and haemostasis
- Publication Type :
- Academic Journal
- Accession number :
- 2530648