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Titolo:
Genetic risk factors for phlebothrombosis: New aspects under special consideration of the inherited resistance to activated protein C (coagulation factor V Leiden).
Autore:
Grohmann, G; Sigusch, HH; Reinhardt, D; Pohlmann, G; Hoffman, A; Figulla, HR;
Indirizzi:
Univ Jena, Innere Med Klin 3, D-07740 Jena, Germany Univ Jena Jena Germany D-07740 Innere Med Klin 3, D-07740 Jena, Germany
Titolo Testata:
PERFUSION
fascicolo: 7, volume: 12, anno: 1999,
pagine: 271 -
SICI:
0935-0020(199907)12:7<271:GRFFPN>2.0.ZU;2-C
Fonte:
ISI
Lingua:
GER
Soggetto:
DEEP-VEIN THROMBOSIS; IDIOPATHIC VENOUS THROMBOEMBOLISM; POOR ANTICOAGULANT RESPONSE; NEONATAL PURPURA FULMINANS; MYOCARDIAL-INFARCTION; BLOOD-COAGULATION; S DEFICIENCY; ARG(506)->GLN MUTATION; GLN MUTATION; THROMBOPHILIA;
Keywords:
phlebothrombosis; genetics; activated protein C; factor V;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
51
Recensione:
Indirizzi per estratti:
Indirizzo: Grohmann, G Univ Jena, Innere Med Klin 3, D-07740 Jena, Germany Univ JenaJena Germany D-07740 Klin 3, D-07740 Jena, Germany
Citazione:
G. Grohmann et al., "Genetic risk factors for phlebothrombosis: New aspects under special consideration of the inherited resistance to activated protein C (coagulation factor V Leiden).", PERFUSION, 12(7), 1999, pp. 271

Abstract

Beside the inherited deficiencies in antithrombin III, protein C and protein S the resistance to activated protein C is the so far most common thrombophilic defect, A point mutation in the gene of factor V (guanine for adenine substitution at position 1691) has been described as the underlying molecular basis, This defect has been referred as to factor V Leiden mutation according to the place where it has been found first, In the general European population a 2-7% prevalence of this defect has been reported, The heterozygous factor V Leiden mutation leads to a 5-10 fold, the homozygous form to a 50-100 fold increased risk of thrombosis, Patient DNA can be screened for this mutation by use of the polymerase chain reaction,The evaluation of patients with venous thromboembolism should in addition to the determination of antithrombin III, protein C and protein S include the search for resistance to activated protein C, The functional resistance to activated protein C assay should be performed first line followed by a genetic analysis if indicated. As long as appropriate evidence from clinicaltrials is not available the benefit of a prolonged anticoagulation in patients with recurrent venous thromboembolism or life threatening first episodes and the presence of factor of factor V Leiden mutation has to be weighedup individually against the potential harm by severe hemorrhage under thistherapy.

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Documento generato il 02/12/20 alle ore 17:32:38