Update on selected inherited venous thrombotic disorders

Robetorye, Ryan S.; Rodgers, George M.

doi:10.1002/ajh.10002

Cited by 55 publications

(36 citation statements)

References 119 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This is in concordance with what has been reported previously in Caucasian populations [2,[13][14][15]. Intriguingly, the APC resistance phenotype could be explained by the factor V Leiden mutation, only in 40% of the cases.…”

Section: Discussionsupporting

confidence: 92%

“…In the past, up to 70% of VTE patients without identifiable risk factors (i.e., malignancy, surgery, trauma, and immobilization) but with clinical features that suggested inherited thrombosis were termed ''idiopathic.'' Now, molecular diagnosis and current labo-ratory techniques allow accurate determination of the genetic basis of inherited thrombophilia in at least half of the Caucasian patients [2].…”

Section: Introductionmentioning

confidence: 99%

“…The Colombian population can be defined as a ''tri-ethnic population,'' whose genetic background is roughly 70% Caucasian (mainly Spanish), 15% Amerindian, and 15% African [3,4]. This is a different distribution from that reported for Mexico, Argentina, and the United States [2,5,6]. In this study, we evaluated Colombian patients with deep vein thrombosis (DVT) and healthy blood donors, in order to assess the frequency of primary thrombophilic defects, including activated protein C resistance (APC resistance), the factor V Leiden mutation (factor V G1691A), the prothrombin G20210A mutation, and the methylenetetrahydrofolate reductase thermolabile variant (MTHFR C677T), as risk factors for thrombosis in this population.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population

et al. 2006

View full text Add to dashboard Cite

The development of venous thromboembolism is influenced by a variety of genetic and environmental risk factors. A few studies have ascertained whether thrombophilic defects are risk factors for venous thromboembolism in Latin American populations with a variable degree of admixture, such as the Colombian population. To address this issue, we conducted a case-control study involving 100 consecutive patients with deep vein thrombosis and 114 healthy controls from the Hospital Universitario San Vicente de Paú l, Medellín, Colombia. Activated protein C resistance (APC resistance) was detected in 25/99 patients vs. 6/114 controls (OR 5 6.08, 95% CI 5 2.23-17.47). Ten of 100 patients carried the factor V Leiden mutation vs. 1/114 controls (OR 5 12.56, 95% CI 5 1.61-267). APC resistance was associated with the factor V Leiden mutation in only 10/25 patients. The prothrombin G20210A mutation was found in 4/100 patients, but none of the controls (P < 0.05). There was no significant difference in the proportion of homozygous carriers of methylenetetrahydrofolate reductase C677T variant among patients and controls. In conclusion, in our studied population, factor V Leiden, APC resistance, and prothrombin G20210A were associated with an increased risk of deep vein thrombosis. However, the frequencies of these thrombophilic defects and of APC resistance associated with factor V Leiden was lower than the corresponding frequencies previously reported for Caucasian populations. Further study is required to assess the influence of ethnicity on thrombophilia. Am. J. Hematol. 81:933-937, 2006. V V C 2006 Wiley-Liss, Inc.

show abstract

Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population

et al. 2006

View full text Add to dashboard Cite

show abstract

“…The annual incidence is approximately 1-3 per 1000 adults in developed countries [1,2], and VTE is the third most common cardiovascular disease [3,4]. Even though surgery, trauma, hospitalization, malignancy, immobilization, pregnancy, use of estrogens and inherited thrombophilia are associated with VTE events [1,5], 30-50% of the events have no obvious predisposing factors [6][7][8].…”

Section: Introductionmentioning

confidence: 99%

Mean platelet volume is a risk factor for venous thromboembolism: the Tromsø study

Brækkan¹,

Mathiesen

Njølstad

et al. 2010

Journal of Thrombosis and Haemostasis

278

252

View full text Add to dashboard Cite

Summary. Background: Platelet size, measured as mean platelet volume (MPV), is associated with platelet reactivity. MPV is increased in acute myocardial infarction, and has been identified as an independent risk factor for future myocardial infarction and stroke. Objectives: The purpose of the study was to determine the impact of platelet count and MPV on the incidence of venous thromboembolism (VTE) in a prospective, population-based study. Methods: Platelet count, MPV and baseline characteristics were registered in 25 923 subjects aged 25-96 years who participated in the Tromsø Study in 1994-1995. Incident VTE events were registered to the end of followup (1 September 2007). Results: There were 445 validated incident VTE events (1.6 per 1000 person-years), of which 186 (42%) were unprovoked, during a mean of 10.8 years of followup. Subjects with MPV ‡ 9.5 fL had a 1.3-fold [95% confidence interval (CI) 1.0-1.7] higher risk of total VTE and a 1.5-fold (95% CI 1.1-2.3) higher risk of unprovoked VTE than subjects with MPV < 8.5 fL in analyses adjusted for age, sex, smoking, body mass index, and platelet count. Increasing MPV was associated with increased risk of total VTE (P for trend = 0.09) and unprovoked VTE (P for trend = 0.03) in analyses adjusted for age and sex. There was no significant association between increasing platelet count and risk of VTE. Conclusions: An increasing MPV was identified as a predictor for VTE, in particular VTE of unprovoked origin. The present findings support the concept that platelet reactivity is important in the pathogenesis of VTE.

show abstract

“…Laboratory investigation of thrombophilia is aimed at detecting the well-established causes of thrombophilia, including activated protein C resistance (APCR)/FVL, FIIG20210A mutation, deficiencies of physiological anticoagulants AT, PC and PS, the presence of aPLAs, HHC and increased levels of FVIII (89)(90)(91). Laboratory investigation of dysfibrinogenemia, as a very rare risk factor for VTE, is not part of routine thrombophilia testing and should be considered in selected patients only, i.e.…”

Section: Which Tests Should Be Performed?mentioning

confidence: 99%

Laboratory Investigation of Thrombophilia / LABORATORIJSKO ISPITIVANJE TROMBOFILIJA

Margetić¹

2014

Journal of Medical Biochemistry

View full text Add to dashboard Cite

Summary: Laboratory investigation of thrombophilia is aimed at detecting the well-established hereditary and acquired causes of venous thromboembolism, including activated protein C resistance/factor V Leiden mutation, prothrombin G20210A mutation, deficiencies of the physiological anticoagulants antithrombin, protein C and protein S, the presence of antiphospholipid antibodies and increased plasma levels of homocysteine and coagulation factor VIII. In contrast, investigation of dysfibrinogenemia, a very rare thrombophilic risk factor, should only be considered in a patient with evidence of familial or recurrent thrombosis in the absence of all evaluated risk factors mentioned above. At this time, thrombophilia investigation is not recommended for other potential hereditary or acquired risk factors whose association with increased risk for thrombosis has not been proven sufficiently to date. In order to ensure clinical relevance of testing and to avoid any misinterpretation of results, laboratory investigation of thrombophilia should always be performed in accordance with the recommended guidelines on testing regarding the careful selection of patients, time of testing and assays and assay methods used. The aim of this review is to summarize the most important aspects on thrombophilia testing, including whom and when to test, what assays and assay methods to use and all other variables that should be considered when performing laboratory investigation of thrombophilia.Keywords: acquired risk factors, hereditary risk factors, laboratory investigation of thrombophilia, venous thromboembolism Sa`etak: Cilj laboratorijskog ispitivanja trombofilije je otkrivanje ve} ustanovljenih naslednih i ste~enih uzroka venskog tromboembolizma, me|u kojima su aktivirana rezistencija na protein C/mutacija faktora V Leiden, mutacija protrombina G20210A, deficijencija fiziolo{kih antikoagulanasa antitrombina, proteina C i proteina S, prisustvo antifosfolipidnih antitela i povi{enih nivoa homocisteina i faktora koagulacije VIII u plazmi. Nasuprot tome, ispitivanje disfibrinogenemije, veoma retkog faktora rizika za trombofiliju, treba uzeti u razmatranje samo kod pacijenata kod kojih postoje dokazi o porodi~noj ili rekurentnoj trombozi uz odsustvo svih navedenih faktora rizika. U ovom trenutku, ispitivanje trombofilije se ne preporu~uje za ostale potencijalne nasledne ili ste~ene faktore rizika, ~ija povezanost sa pove}anim rizikom za trombozu jo{ nije nedvosmisleno dokazana. Kako bi se obezbedila klini~ka relevantnost testiranja i izbeglo pogre{no tuma~enje rezultata, laboratorijsko ispitivanje trombofilije trebalo bi uvek vr{iti u skladu s preporukama za testiranje koje se odnose na pa`ljiv odabir pacijenata, vreme testiranja i testove i metode koji se koriste. Cilj ovog preglednog ~lanka je da se ukratko predstave najva`niji aspekti testiranja trombofilije, izme|u ostalog, koga i kada testirati, koje testove i metode upotrebiti i koje sve varijable treba uzeti u obzir prilikom laboratorijskog ispitivanja trombofilije.Klju~ne rije~i...

show abstract

Update on selected inherited venous thrombotic disorders

Cited by 55 publications

References 119 publications

Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population

Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population

Mean platelet volume is a risk factor for venous thromboembolism: the Tromsø study

Laboratory Investigation of Thrombophilia / LABORATORIJSKO ISPITIVANJE TROMBOFILIJA

Contact Info

Product

Resources

About