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[5/10/2025 12:26:41 PM]http://www.ksmf.org/arhimed/poglej.asp?id=13
Odkrivanje trombofilije v druzinah bolnikov z vensko trombozo
Avtor: Barbara Hudournik, Aljosa Oštir
Mentor: doc. dr. Polona Peternel
IZHODIŠCA: Med prirojeno trombofilijo, stanje, ki povecuje nagnjenje k venski trombozi (VT), uvrscamo pomanjkanje antitrombina III (AT III), proteina C in S ter neodzivnost na aktivirani protein C (APC-R). Številna vprašanja o vplivu prirojene trombofilije na družinsko pojavljanje VT še niso odgovorjena. Znano je, da prisotnost prirojene trombofilije sama po sebi ne vodi nujno do VT, pogosto so za njen nastanek potrebni dodatni sprožilni dejavniki.
NAMEN: V raziskavi smo ugotavljali prisotnost prirojene trombofilije in VT v družinah bolnikov, ki so že utrpeli VT in imajo prirojeno trombofilijo. Iskali smo morebitne razlike v bioloških lastnostih in vrednostih hemostatskih in hematoloških testov med osebami s prirojeno trombofilijo, ki so dozivele VT in asimptomatskimi nosilci trombofilije. Proucevali smo tudi pogostost izpostavljenosti sprožilnim dejavnikom, ki so povezani z nastankom VT. METODE: V raziskavo smo vkljucili 14 bolnikov z VT (8 žensk, 6 moških, starih od 25 do 50 let, poprecno 41 let), pri katerih smo ugotovili prirojeno trombofilijo. K raziskavi smo pritegnili 34 bližnjih sorodnikov bolnikov ( 15 žensk, 19 moških, starih od 11 do 80, povprecno 44 let). Pri vseh preiskovancih smo merili aktivnost AT III, proteina C in S ter APC-R. Merili smo tudi aktivirani parcialni tromboplastinski cas, trombinski cas, fibrinogen, protrombinski cas, lupusne antikoagulante, D-dimere ter osnovne hematološke parametre. Ovrednotili smo pogostost bolnikove izpostavljenosti dejavnikom tveganja za nastanek VT, med katere smo uvrstili imobilizacijo uda, mirovanje dlje kot 3 dni, nedavno operacijo, oralno kontracepcijo, nosecnost in porod.
REZULTATI: Pri 11 od 14 bolnikov z VT (79 %) smo ugotovili APC-R, pri 3 od 14 (21 %) pa pomanjkanje AT III. Med pregledanimi sorodniki bolnikov z APC-R smo pri 12 od 23 (52 %) odkrili isto pomanjkanje. Tudi pri 3 od 11 (27 %) pregledanih sorodnikov bolnikov z AT III smo odkrili isto obliko prirojene trombofilije. Med sorodniki bolnikov z APC-R ni nihce utrpel VT, en sorodnik s pomanjkanjem AT III je imel VT. Pri 2 sorodnikih, ki sta doživela VT, nismo odkrili prirojene trombofilije. Med sorodniki so le 3 preboleli VT. Med bolniki z VT in asimptomatskimi nosilci prirojene trombofilije nismo odkrili razlik v bioloških lastnostih in ne v merjenih hemostatskih in hematoloških parametrih. Bolniki s prirojeno trombofilijo, ki so že doživeli VT, so bili 3-krat pogosteje izpostavljeni sprožilnim dejavnikom kot asimptomatski nosilci prirojene trombofilije.
ZAKLJUCEK: Na osnovi rezultatov nase raziskave zakljucujemo, da je APC-R najpogostejša oblika prirojene trombofilije pri bolnikih z VT. Odkrijemo jo tudi pri dobri polovici bližnjih sorodnikov. Prirojena trombofilija ni nujno povezana z razvojem VT, za njen nastanek so pomembni dodatni sprožilni dejavniki
[Abstract / English version]
Investigating thrombophilia in families of patients with venous thrombosis
Author: Barbara Hudournik, Aljosa Oštir
Mentor: doc. dr. Polona Peternel
BACKGROUND: Inherited thrombophilia, state which predisposes individuals to venous thrombosis (VT) can mainly be attributed to the deficiency of antithrombin III (AT III), deficiency of protein C or protein S, or resistance to activated protein C (APC-R). The impact of hereditary thrombophilia in familial VT is not completely understood. It is known, that hereditary thrombophilia by itself does not necessarily lead to development of VT and that additional risk factors have to be present.
PURPOSE: In the present study hereditary thrombophilia was investigated in the families of patients with VT and hereditary thrombophilia. Differences in biological factors and differences in levels of haemostatic and haematological parameters between subjects with hereditary thrombophilia and VT and asymptomatic carriers were studied. Presence of risk factors predisposing to VT was also studied.
METHODS: 14 patients with objectively diagnosed VT and inherited thrombophilia in history (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 20 males, 11-80 years old, with a mean age of 44 years), were included. In all subjects we measured activity of AT III, protein C and S and APC-R, as well as activated partial thromboplastin time, thrombin time, prothrombin time, fibrinogen, lupus anticoagulants, D-dimers and complete blood cell count. Factors predisposing to VT (immobilisation of a limb, bed-rest longer than 3 days, recent surgery, oral contraception, pregnancy and delivery) were also assessed.
RESULTS: In 11 out of 14 patients with VT(79 %) we detected APC-R, and in the remaining 3 patients (21 %) deficiency of AT III was observed. Among the relatives of patients with APC-R we found the same deficiency in 12 out of 23 subjects (52 %). Three out of I 1 (27 %) relatives of patients with deficiency of AT III had the same deficiency. Among relatives with APC-R no one suffered VT, while among relatives with AT III deficiency one had VT. In 2 relatives with VT no hereditary thrombophilia could be detected. Among the relatives, only three subjects suffered VT in the past. There were no significant differences in haemostatic and haematological parameters between patients with VT and asymptomatic subjects with inherited thrombophilia. Subjects with inherited thrombophilia who had suffered VT had been exposed to risk factors for VT 3-times more often than subjects with inherited thrombophilia who have remained asymptomatic.
CONCLUSIONS: Results of this study show that APC-R is the most common form of inherited thrombophilia. This defect was found in about one half of close relatives of the patients with VT and APC-R. It was concluded that inherited thrombophilia need not lead to symptomatic VT unless other risk factors are present.