Role of Investigating Thrombophilic Disorders in Young Stroke

Ng, Kim Tien; Loh, Pei K; Sharma, Vijay K.

doi:10.4061/2011/670138

Cited by 14 publications

(22 citation statements)

References 76 publications

(118 reference statements)

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“…Inherited thrombophilia is associated with unprovoked venous thromboembolism (VTE) but the evidence is conflicting for arterial thrombosis, as shown in an extensive review article by Morris et al [2]. The cutoff age to define young and old is not clearly delineated, but ischemic stroke occurring in patients younger than 44 years of age is considered young [1]. Ischemic stroke secondary to an underlying hypercoagulable disorder is more common in younger patients (10-15%), but cardioembolism remains the most common etiology [1].…”

Section: Discussionmentioning

confidence: 99%

“…The cutoff age to define young and old is not clearly delineated, but ischemic stroke occurring in patients younger than 44 years of age is considered young [1]. Ischemic stroke secondary to an underlying hypercoagulable disorder is more common in younger patients (10-15%), but cardioembolism remains the most common etiology [1]. One study found that younger age is a predictor for ordering specialized coagulation tests [3].…”

Section: Discussionmentioning

confidence: 99%

“…Antiphospholipid syndrome was found to be a major risk factor for arterial thrombotic events in young women, with a higher risk in patients tested positive for lupus anticoagulant compared to anticardiolipin antibodies, although the latter is less common [1]. Rahemtullah et al reviewed 14 prospective stroke or TIA studies, 8 of which identified a significant finding in association with an antiphospholipid antibody [16].…”

Section: Signs and Symptoms Suggestive Of Antiphospholipid Syndrome (mentioning

confidence: 99%

“…Widespread testing can lead to incidental findings of abnormalities, some of which are difficult to interpret in the setting of acute ischemic events or anticoagulation. There is also added cost of diagnostic testing, leading to unnecessary anticoagulation and also generate anxiety in both patients and families [1]. Of note, the functional assays for Protein C, Protein S and AT deficiency are affected by acute thrombosis, acute phase reactant and in the setting of anticoagulation therefore the assays should be repeated at least 3 months after the acute thrombotic event [13].…”

Section: Cryptogenic Stroke With Signs or Symptoms Suggestive Of An Omentioning

confidence: 99%

“…Hypercoagulable state or thrombophilia are disorders of the hemostatic mechanisms that increases the risk of thrombosis, both arterial and venous [1]. Inherited thrombophilia is a well-recognized risk factor for venous thrombosis, but its association with arterial thrombosis has not been clearly established.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Association between thrombophilia and ischemic stroke: when is work-up for hypercoagulable state indicated?

Loh¹,

Ramdass²,

Howard³

et al. 2016

Clin Case Rep Rev

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Signs and Symptoms Suggestive Of Antiphospholipid Syndrome (mentioning

confidence: 99%

Section: Cryptogenic Stroke With Signs or Symptoms Suggestive Of An Omentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Association between thrombophilia and ischemic stroke: when is work-up for hypercoagulable state indicated?

Loh¹,

Ramdass²,

Howard³

et al. 2016

Clin Case Rep Rev

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Connection between small vessel disease related stroke and the MTHFR C677T polymorphism in a Hungarian population

Annus

Juhász

Szabó

et al. 2020

Heliyon

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Introduction: There are conflicting results in the literature regarding the connection between thrombophilias and ischaemic stroke. However, most of the clinical studies have not differentiated between various ischaemic stroke subtypes. Our aim was to investigate whether there is an association between the methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism and ischaemic stroke due to small vessel disease (SVD) in patients 50 years of age. Patients and methods: We performed a retrospective search in the database used at our Health Centre. Our study population consisted of 100 ischaemic stroke patients. 65 patients had MTHFR C677T variants: 21 were homozygous (TT allele), 45 were heterozygous (CT). 35 stroke patients did not carry MTHFR C677T polymorphism (wild genotype, CC). Stroke subtypes were determined according to the TOAST classification. Pearson's chisquared test of independence was used to evaluate differences between subgroups and multivariate logistic regression was also performed. Results: More than half of our study population (52.00%) had lacunar strokes. The ratio of SVD in patients 50 years of age with TT homozygous variant was significantly higher compared to heterozygous and wild type subjects (p ¼ 0.032 and p ¼ 0.03 respectively). Multivariate logistic regression also showed, that apart from hypertension, only TT homozygosity was a predictive factor for SVD related stroke (p ¼ 0.014, OR 1.619, 95% CI 1.390-18.338). Conclusion: Our results demonstrate that in a Hungarian population of ischaemic stroke patients 50 years of age, SVD is the most common stroke subtype. In addition, we found association of SVD stroke with hypertension and MTHFR 677TT homozygous polymorphism.

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Protein S Deficiency Resulting in Recurrent Arterial Ischemic Strokes in a Young Female: A Case Report

Sheetal,

Gladson,

George

et al. 2024

Apollo Medicine

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Introduction: Ischemic stroke in younger adults has been increasing over the years. It is often challenging to identify the underlying etiology and pathogenesis of stroke in the young. Inherited thrombophilias contribute to about 1%–4% of ischemic strokes in the young. Of the inherited thrombophilias, isolated protein S deficiency is an important risk factor for the development of arterial ischemic strokes. It is commonly associated with venous thrombosis but it is rarely associated with arterial ischemic strokes, contributing to 4%–12% of young strokes. Case Description: We report the case of a 38-year-old female who presented with acute onset of weakness in her left upper and lower limbs, whose magnetic resonance imaging brain showed evidence of recurrent arterial ischemic strokes and was detected to have an isolated protein S deficiency. Conclusion: It is very important to identify the underlying etiology in a young patient with stroke. Although protein S deficiency is commonly associated with venous thrombosis, it can be rarely associated with arterial ischemic strokes; hence, thrombophilia workup should always be done in the evaluation of young stroke.

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Role of Investigating Thrombophilic Disorders in Young Stroke

Cited by 14 publications

References 76 publications

Association between thrombophilia and ischemic stroke: when is work-up for hypercoagulable state indicated?

Association between thrombophilia and ischemic stroke: when is work-up for hypercoagulable state indicated?

Connection between small vessel disease related stroke and the MTHFR C677T polymorphism in a Hungarian population

Protein S Deficiency Resulting in Recurrent Arterial Ischemic Strokes in a Young Female: A Case Report

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