Author/Editor		Hudournik, Barbara; Oštir, Aljoša
Title		Odkrivanje trombofilije v družinah bolnikov z vensko trombozo
Translated title		Investigating trombophilia in families of patients with venous thrombosis
Type		članek
Source		Med Razgl
Vol. and No.		Letnik 39, št. 3
Publication year		2000
Volume		str. 255-70
Language		slo
Abstract		Inherited trombophilia, state that predisposes individuals to venous thrombosis may be due to deficiency of antithrombin III, deficiency of protein C or protein S, or resistance to activated protein C. The impact of hereditary trombophilia in familial venous thrombosis is not completely understood. It is known that hereditary trombophilia by itself does not necessarily lead to development of venous thrombosis and that additional risk factors have to be present. In the present study hereditary thrombophilia was investigated in the families of patients with venous thrombosis and hereditary thrombophilia. Differences in biological factors and differences in levels of hemostatic and hematological parameters between subjects with hereditary thrombophilia and venous thrombosis and assimptomatic carriers were studied. Presence of the risk factor predisposing to venous thrombosis was also studied. 14 patients who had been diagnosed with venous thrombosis and inherited thrombophilia (8 females and 6 males, 25-50 years old, with a mean age of 41 years), and 34 close relatives of these patients (15 females and 19 males,11-80 years old, with a mean age of 44 years), were included. In all subjects we measured the activity of antithrombin III, proteins C and S, and resistance to activated protein C, as well as activated partial thromboplastin time, thrombin time, prothrombin time, fibrinogen, lupus anticoagulants, D-dimers, and complete blood cell count. Factors predisposing to venous thrombosis such as immobilisation of a limb, bed rest longer than three days, recent surgery, oral contraception, pregnancy and delivery were also assessed. (Abstract truncated at 2000 characters)
Summary		Med prirojeno trombofilijo, stanje, ki povečuje nagnjenje k venski trombozi, uvrščamo pomanjkanja antitrombina III, beljakovin C in S ter neodzivnosti na aktivirano beljakovino C. Številna vprašanja o vplivu prirojene trombofilije na družinsko pojavljanje venske tromboze še niso odgovorjena. Znano je, da prisotnost prirojene trombofilije sama po sebi ne vodi nujno do venske tromboze, pogosto so za njen nastanek potrebni dodatni sprožilni dejavniki. V raziskavi smo ugotavljali prisotnost prirojene trombofilije in venske tromboze v družinah bolnikov, ki so že utrpeli vensko trombozo in imajo prirojeno trombofilijo. Iskali smo morebitne razlike v bioloških lastnostih in vrednostih hemostatskih in hematoloških testov med osebami s prirojeno trombofilijo, ki so doživele vensko trombozo in asimptomatskimi nosilci trombofilije. Proučevali smo tudi pogostost izpostavljenosti sprožilnim dejavnikom, ki so povezani z nastankom venske tromboze. V raziskavo smo vključili 14 bolnikov s prebolelo vensko trombozo (8 žensk, 6 moških, starih od 25 do 50, poprečno 41 let), pri katerih smo v obdobju po preboleli akutni venski trombozi ugotovili prirojeno trombofilijo. K raziskavi smo pritegnili 34 bližnjih bolnikovih sorodnikov (15 žensk,19 moških, starih od 11 do 80 let, poprečno 44 let). Pri vseh preiskovancih smo merili aktivnost antitrombina III, beljakovin C in S ter neodzivnost na aktivirano beljakovino C. Merili smo tudi aktivirani parcialni tromboplastinski čas, trombinski čas, fibrinogen, protrombinski čas, lupusne antikoagulante, D-dimere ter osnovne hematološke parametre. Ovrednotili smo pogostost bolnikove izpostavljenosti dejavnikom tveganja za nastanek venske tromboze, med katere smo uvrstili imobilizacijo uda, mirovanje dlje kot tri dni, nedavno operacijo, oralno kontracepcijo, nosečnost in porod. (Izvleček skrajšan pri 2000 znakih)
Descriptors		THROMBOPHLEBITIS THROMBOEMBOLISM FAMILY BLOOD COAGULATION TESTS RISK FACTORS PROTEIN C PROTEIN S DEFICIENCY ANTITHROMBIN III