title: Low levels of tissue factor pathway inhibitor (TFPI) in two out of three members of a family with thrombophilia.
abstract: We describe a family with severe thrombosis of early onset in two siblings and in their father. Low levels of TFPI were detected in the two siblings (50% and 45% respectively) but their parents have normal TFPI levels. All other hemostatic proteins associated with thrombophilia, as well as blood lipids were within the normal range. The release of TFPI, after heparin administration, was proportionally reduced in the two siblings as compared with controls. The study of this family does not permit to conclude that low levels of TFPI are responsible for their thrombophilia. In the future the study of more families with similar characteristics may allow to know the inheritance of TFPI and whether there is a causal relationship between low levels of TFPI and thrombosis.
authors.affiliation: Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: D
authors.initials: D
authors.lastname: Llobet
authors.forename: L
authors.initials: L
authors.lastname: Falkon
authors.forename: J
authors.initials: J
authors.lastname: Mateo
authors.forename: C
authors.initials: C
authors.lastname: Vallvé
authors.forename: E
authors.initials: E
authors.lastname: Martínez
authors.forename: J
authors.initials: J
authors.lastname: Fontcuberta
authors.forename: M
authors.initials: M
authors.lastname: Borrell
mesh_terms: D000368:Aged; D000925:Anticoagulants / Q000627:therapeutic use; D005260:Female; D006493:Heparin / Q000627:therapeutic use; D006801:Humans; D008074:Lipoproteins / Q000172:deficiency* / Q000187:drug effects; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D010375:Pedigree; D013927:Thrombosis / Q000097:blood* / Q000188:drug therapy / Q000209:etiology
chemical_list: D000925:Anticoagulants; D008074:Lipoproteins; C051928:lipoprotein-associated coagulation inhibitor; D006493:Heparin