Evaluation of the prevalence of severe hyperhomocysteinemia in adult patients with thrombosis who underwent screening for thrombophilia

Evaluation for underlying hypercoagulable states in patients with thrombosis is a frequent clinical conundrum. Testing for thrombophilias is often reflexively performed without strategic approach nor clear appreciation of the clinical implications of such results. Guidelines vary in the appropriate utilization of thrombophilia testing. In this review, we discuss the more commonly encountered inherited and acquired thrombophilias, their association with initial and recurrent venous thromboembolism, arterial thromboembolism, and role in women's health. We suggest an approach to thrombophilia testing guided by the clinical presentation, suspected pathophysiology, and an understanding of how such results may affect patient care.

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“…As noted above, targeted intervention to lower homocysteine levels does not appear to impact thrombotic risk. 56…”

Section: Thrombophilia and Strokementioning

confidence: 99%

Hypercoagulable states in arterial and venous thrombosis: When, how, and who to test?

Carroll

Piazza

2018

Vasc Med

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“…In this subgroup the median age at diagnosis was 47 years (range 19-83), and the median level of tHcy was 130 μmol/L (range 101-262). Recurrent thrombosis occurred in 42% of cases [ 10 ]. In seven families in a consanguinous Israeli Arab population, 4/45 members were both homozygous for CBS and heterozygous for the FVL mutation, and all four developed deep vein thrombosis.…”

Section: Discussionmentioning

confidence: 99%

Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis

et al. 2014

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Homocysteine is an amino acid that is toxic to vascular endothelial cells, and plasma elevations have been associated with venous thromboembolism. Severe hyperhomocysteinemia (>100 μmol/L) may result from mutations in the genes coding for enzymes in the trans-sulfuration or the folate/vitamin B12-dependent re-methylation pathways. Here, we report the case of a young woman with severe, recurrent thrombo-embolic events associated with severe hyperhomocysteinemia (111 μmol/L). We identified a homozygous mutation in the cystathionine β -synthase gene (p.I278T) and the presence of the Factor V Leiden mutation. Family study shows segregation of elevated homocysteine in heterozygous relatives for the mutation in the cystathionine β -synthase gene. Management consisted of anticoagulation with warfarin and supplementation with folate, vitamin B6 (pyridoxine) and vitamin B12. After twelve years of follow-up, plasma homocysteine levels remain in the moderate range (~20 μmol/L, reference range 8-12 μmol/L) and no further thromboembolic events were identified.

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“…Currently, robust evidence reveals an association of non-Oblood groups (i.e. A, B and AB), 6,28 persistently elevated levels of factor VIII, 29,30 severe hyperhomocysteinaemia 31 and some types of dysfibrinogenemia 32 with an elevated risk of VTE. In general, these markers are considered as 'mild' risk factors.…”

Section: Thrombophilia With Less or Unknown Clinical Significancementioning

confidence: 99%

Laboratory Diagnostics in Thrombophilia

Linnemann

Hart

2019

Hamostaseologie

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A thrombophilic disorder is a hereditary or acquired condition that increases the risk of thrombosis. The most common hereditary thrombophilias that predispose to venous thrombosis in the Caucasian population are the heterozygous forms of the factor V Leiden and prothrombin G20210A mutation that are generally detected by direct DNA genotyping. Immunologic antigen assays and chromogenic or clot-based activity assays are used to identify deficiencies in the natural coagulation inhibitors antithrombin, protein C and protein S. Because pre-analytical errors and acquired causes of low antithrombin, protein C or protein S levels are considerably more common than hereditary deficiencies, all potential conditions that may lower activity levels of the natural coagulation inhibitors (e.g. concomitant liver disease, pregnancy, anticoagulant therapy) must be considered and excluded before the diagnosis of an inhibitor deficiency can be made. To avoid misclassification, the diagnosis should not be made based on a single abnormal test result. Thus, repetitive testing when the patient is not on anticoagulant therapy is mandatory to confirm the diagnosis. Screening for antiphospholipid syndrome (APS) comprises testing for lupus anticoagulants (LAs) and the presence of IgG or IgM antibodies directed against phospholipids and phospholipid-binding proteins such as β-2-glycoprotein-I. A combination of clot-based assays has been recommended to demonstrate LA activity, whereas solid-phase immunoassays allow the detection of anti-cardiolipin and anti-β-2-glycoprotein-I antibodies. The diagnosis of APS requires the persistence of antiphospholipid antibodies for at least 12 weeks together with thrombotic and/or obstetric features of APS.

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Evaluation of the prevalence of severe hyperhomocysteinemia in adult patients with thrombosis who underwent screening for thrombophilia

Cited by 18 publications

References 15 publications

Hypercoagulable states in arterial and venous thrombosis: When, how, and who to test?

Hypercoagulable states in arterial and venous thrombosis: When, how, and who to test?

Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis

Laboratory Diagnostics in Thrombophilia

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