Frequen cy of fac tor II G20210A, factor V Lei den, MTHFR C677T and PAI-1 5G/4G polymor phi sm in patien ts wi th venous throm boem bo li sm: Croa tian case-con trol stu dy Ab stra ctIn tro duc tion: Venous throm boem bo lic di sea se is one of the lea di ng cau ses of mor bi di ty and mor ta li ty in the de ve lo ped wor ld. Iden ti ca tion of he re di ta ry fac to rs of throm bop hi lia is con tri bu ti ng to a bet ter un der stan di ng of the etio lo gy and di sea se pre ven tion. The aim of this stu dy was to as se ss the pre va le nce of fac tor II G20210A, fac tor V Lei den, MTHFR (met hyle ne tet ra hydro fo la te re duc ta se) C677T and PAI-1 (plas mi no gen ac ti va tor in hi bi to r-1) 5G/4G po lymor phis ms in heal thy Croa tian sub jec ts and pa tien ts wi th throm boem bo li sm. Ma te ria ls and met ho ds: This pros pec ti ve stu dy in clu ded 100 throm boem bo lic pa tien ts con se cu ti ve ly ad mit ted to the In ten si ve Ca re Unit, Ses tre Mi los r dni ce Uni ver si ty Hos pi tal and 106 heal thy sub jec ts. Ge no typi ng of fac tor II G20210A, fac tor V Lei den, MTHFR C677T and PAI-1 5G/4G po lymorphis ms was do ne usi ng mel ti ng cur ve ana lysis on Lig ht Cycler 1.2 ana lyzer. Re sul ts: Hete ro zygo tes for Fac tor V Lei den po lymor phi sm we re mo re freque nt in the group of pa tien ts wi th the throm boem bo lic di sea se (16%) than in the con trol heal thy sub jec ts (2.9%), OR (95% CI) = 6.41 (1.81-22.8); P = 0.004. Al le le and ge no type frequen cies of ot her stu died po lymorphis ms did not di er be tween ca ses and con tro ls. Con clu sion: This stu dy con r med the as so cia tion of fac tor V Lei den po lymor phi sm wi th the throm boem bo lic di sea se in Croa tian po pu la tion. Key wor ds: throm bop hi lia; coa gu la tion di sor de rs; po lymor phi sm; FV Lei den; fac tor II; plas mi no gen ac ti va tor in hi bi to r-1; met hyle ne tet ra hydro fo late re duc ta se Re cei ved: De cem ber

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The absence of the inferior vena cava is a rare congenital anomaly and represents a modest risk for deep-venous thrombosis. When associated with genetic polymorphism or other hypercoagulable states, the risk can increase several times. A case of young man with the inferior vena cava agenesia and deep-venous thrombosis of both legs triggered by the physical effort is reported. The view that the congenital inferior vena cava malformation represents a predisposition to deep-venous thrombosis in spite of well-developed collateral circulation is supported. In these circumstances, various external triggers (physical effort, hormonal contraception etc) may precipitate thrombosis. Because the patient had no other convincing and permanent risk factors for thrombosis, the lifelong anticoagulant therapy was not recommended.

Hypercoagulable state is not a uniform disease. It is a complex condition with an abnormal propensity for thrombosis that may or may not lead to thrombosis, depending on complex gene-gene and gene-environment interactions. The prevalence of the hypercoagulable state depends on the ethnicity and clinical history of the population being studied. The consequences of a hypercoagulable state due to thrombosis of veins and arteries are the most important cause of sickness and death in developed countries at present. Primary hypercoagulable state is an inherited condition caused by the reduced level of natural anticoagulants due to a qualitative defect or quantitative deficiency of an antithrombotic protein, or increased concentrations or function of coagulation factors. Most of the inherited abnormalities recognized to date have little or no effect on arterial thrombosis and are associated primarily with venous thromboembolism. Arterial thrombosis usually develops as a complication of atherosclerosis and patients usually have more than one traditional risk factor. Secondary hypercoagulable states generally occur as a result of a large number of transient or permanent acquired conditions that increase the tendency for formation of blood clots. New epidemiological data and clinical trials suggest that many acquired risk factors in the pathophysiology of arterial and venous thrombosis overlap and coexist for both disorders.

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