Biochemia Medica, Vol. 16 No. 2, 2006.
Case report
Thromboembolism in a 14-year-old boy – case report
Sandra Margetić
Biserka Raić
Tomislav Franjo Hajnžić
Nikola Bulj
Elizabeta Topić
Andrea Tešija-Kuna
Nora Nikolac
Abstract
Introduction: A case of venous thromboembolism (VTE) in a 14-year-old boy who developed deep venous thrombosis of the right leg followed by pulmonary embolism complicated with pulmonary infarction is described in this article.
Aim: To present results of laboratory diagnosis suggesting the possible cause of VTE occurrence in this patient.
Materials and methods: Laboratory diagnosis of VTE included determination of antiphospholipid antibodies: lupus anticoagulant (LAC) and anticardiolipin antibodies (ACA) IgG and IgM classes, inhibitors of coagulation (antithrombin, protein C, protein S) and fibrinolysis (plasminogen activator inhibitor-1 (PAI-1)), determination of activated protein C resistance (APCR) and molecular diagnosis of thrombophilic factors: genotyping polymorphisms in the gene for PAI-1 and methylenetetrahydrofolate reductase (MTHFR), mutation G20210A for coagulation factor II (prothrombin) and mutation G1691A for coagulation factor V (factor V Leiden).
Results: The following antiphospholipid antibodies were demonstrated in the patient: lupus anticoagulant (LAC ratios 3.0 and 2.76) and anticardiolipin antibodies of IgG class (104.7 and 103.7 GPL-U/mL) on two independent measurements nine weeks apart. These results, along with clinical presentation, suggested the presence of antiphospholipid syndrome. Molecular diagnosis confirmed polymorphism in the gene for PAI-1 (genotype 4G/5G), which was in accordance with elevated concentration of PAI-1 measured in plasma (4.9 IU/mL).
Conclusion: In this patient, laboratory diagnosis of thrombophilia revealed antiphospholipid syndrome as a risk factor for VTE. Although PAI-1 polymorphism is not considered as an independent risk factor for VTE, it is possible that in patients with established thrombophilic factor such as antiphospholipid syndrome this polymorphism may play a role in VTE occurrence. Infection and prolonged bed rest that preceded thrombosis could have been additional risk factors for VTE occurrence in this patient. The reported case supports the current concepts according to which VTE occurrence most frequently results from interaction of genetic and acquired risk factors.
Keywords
venous thromboembolism; antiphospholipid syndrome; PAI-1 polymorphis
Hrčak ID:
9779
URI
Publication date:
20.12.2006.
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