Thrombophilia–hypofibrinolysis and atherothrombotic cardiovascular disease ≤ age 45 years

Glueck, Charles J.; Munjal, J.; Aregawi, D.; Agloria, Maliha; Winiarska, M.; Khalil, Qasim; Wang, Ping

doi:10.1016/j.trsl.2007.03.005

Cited by 15 publications

(9 citation statements)

References 58 publications

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“…The association of arterial thrombosis with hereditary thrombophilia is a controversial issue [10][11][12]26]. Generally, routine thrombophilia screening is not recommended excluding some particular cases.…”

Section: Discussionmentioning

confidence: 99%

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Risk factors for thrombophilia in young adults presenting with thrombosis

Yokuş

Albayrak²,

Balçık³

et al. 2009

Int J Hematol

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The increased risk for thrombosis is known as hypercoagulability or thrombophilia. Here, we investigated risk factors for thrombophilia which were screened in young adult patients presenting with thrombotic events or with recurrent abortions with unknown etiology. A total of 115 patients aged between 16 and 50 years who were found to harbor thrombophilia were retrospectively evaluated. The laboratory investigations performed for the assessment of thrombophilia included protein C, protein S, antithrombin III deficiencies, activated protein C resistance, factor V Leiden (FVL), prothrombin 20210A (PT 20210) and methylenetetrahydrofolate reductase (MTHFR) gene mutations, factor VIII elevation, lupus anticoagulant and antiphospholipid antibodies (APA). In 66% of the cases a single thrombophilic defect was identified while some of the patients had combined thrombophilic defects. The most common thrombophilic defect was mutation in the MTHFR gene, and was followed by FVL mutation, the presence of APA and PT 20210 gene mutation, respectively. The patients were divided into two different age groups, 16-35 and 36-50 years, and arterial thrombosis was more common in the older age group. Our results indicated that some important thrombophilic defects such as gene mutations may appear in young adult patients presenting with thrombotic events.

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Section: Discussionmentioning

confidence: 99%

“…The risk for thrombosis increases in the presence of combined defects [2]. Today, we know that thrombophilia may also lead to arterial thromboses [10][11][12]. The prevalence and types of thrombophilic risk factors vary in different patient populations [4][5][6].…”

Section: Introductionmentioning

confidence: 99%

Risk factors for thrombophilia in young adults presenting with thrombosis

Yokuş

Albayrak²,

Balçık³

et al. 2009

Int J Hematol

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“…We estimated sample size based on patient-control differences in key measures of thrombophilia (Factor V Leiden mutation [10], resistance to activated protein C [22], Factor VIII [38]) and hypofibrinolysis (Lp[a]) [64]. Sample size analyses revealed that with alpha = 0.05 and power 80%, based on patient-control differences in Factor V Leiden [10], Factor VIII [38], resistance to activated protein C [22], and Lp(a) [64], there should be 33 or more, 32 or more, 25 or more, and 32 or more subjects in both patient and control groups, respectively. Our sample size was adequate to ascertain patient-control differences in our key measures of thrombophilia and hypofibrinolysis with alpha = 0.05 and beta = 0.20, because there were 71 patients with idiopathic ON versus 69 control subjects and 62 patients with secondary ON versus 62 control subjects.…”

Section: Methodsmentioning

confidence: 99%

Heritable Thrombophilia-Hypofibrinolysis and Osteonecrosis of the Femoral Head

Glueck

Freiberg²,

Wang

2008

Clinical Orthopaedics &Amp; Related Research

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We hypothesized that inherited thrombophilia and hypofibrinolysis were risk factors for osteonecrosis of the femoral head. We compared measures of thrombophilia and hypofibrinolysis in referred new adult patients with idiopathic osteonecrosis (n = 71) or secondary osteonecrosis (n = 62) with the same measures in sex- and race-matched healthy control subjects. Heritable thrombophilic Factor VIII and hypofibrinolytic Lp(a) were more frequently high in the 71 patients with idiopathic osteonecrosis than in control subjects. High Factor VIII, Factor V Leiden heterozygosity, and resistance to activated protein C, all heritable thrombophilias, were more frequently present in the 62 patients with secondary osteonecrosis than in control subjects. Our data suggest inherited thrombophilia and hypofibrinolysis are risk factors for both idiopathic and secondary osteonecrosis of the head of the femur.

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“…atrial fibrillation). In studies assessing the role of hereditary thrombophilia in the etiology of cerebral arterial and cerebral venous thrombosis (CAT, CVT), the risk for stroke was found to increase in the presence of different thrombophilic factors [9][10][11][12][13][14][15][16]. Hypercoagulable states are responsible for 5-10% of all IS cases, and hereditary thrombophilia is especially more common in the etiology of IS in the younger subgroup of patients [17].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of risk factors for thrombophilia in patients with cerebral venous thrombosis

Yokuş¹,

Balçık²,

Albayrak³

et al. 2010

Turk J Hematol

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Objective: The increased risk for thrombosis is known as hypercoagulability or thrombophilia. In our study, we aimed to determine the frequency of the identified defects for thrombophilia in patients with central venous thrombosis aged under 50 years and to compare results with the findings in the current literature. Materials and Methods: Forty-three patients (16-50 years old) were retrospectively evaluated. Thrombophilia investigation included determinations of protein C, protein S, antithrombin, and activated protein C resistance, factor V Leiden (FVL), prothrombin 20210A (PT 20210) and methylene tetrahydrofolate reductase (MTHFR) C677T mutations, antiphospholipid antibodies (APA), factor VIII levels, and homocysteine levels. Results: We detected a single thrombophilic defect in 67.4%, two defects in 27.9% and three defects in 4.7% of our patients. The most common thrombophilic defect was mutation in the MTHFR gene (41.8%), and this was followed by the FVL mutation (34.9%). Conclusion: Since the prevalence of individual thrombophilic defects varies in each population, ethnic group and geographical location, screening for thrombophilic defects in patients presenting with cerebral venous thrombosis should primarily investigate the most frequent thrombophilia risk factors. (Turk J Hematol 2010; 27: 162-7) Key words: Cerebral venous thrombosis, thrombophilia, thrombophilic defects Received: October 4, 2009 Accepted: March 22, 2010 Özet Amaç: Tromboz riskinin artması hiperkoagulabilite ya da trombofili olarak bilinmektedir. Çalışmamızda, serebral venöz tromboz gelişen ve trombofilik defekt saptanan 50 yaş ve altı hastalarımızda tespit edilen trombofilik defektleri, sıklığını değerlendirmek ve literatür bilgileriyle karşılaştırmak amaçlanmıştır.

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Thrombophilia–hypofibrinolysis and atherothrombotic cardiovascular disease ≤ age 45 years

Cited by 15 publications

References 58 publications

Risk factors for thrombophilia in young adults presenting with thrombosis

Risk factors for thrombophilia in young adults presenting with thrombosis

Heritable Thrombophilia-Hypofibrinolysis and Osteonecrosis of the Femoral Head

Evaluation of risk factors for thrombophilia in patients with cerebral venous thrombosis

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