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Tromboembolismo venoso em idade pediátrica
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Abstract(s)
Introdução: O tromboembolismo venoso é uma entidade rara em idade pediátrica, de etiologia multi-fatorial, sendo importante estabelecer o seu diagnóstico e avaliar o prognóstico funcional.
Caso clínico: Adolescente de 11 anos, habitualmente saudável, observada no Serviço de Urgência por clínica compatível com trombose venosa superficial do membro superior. Da investigação realizada, controlo analítico incluindo velocidade de sedimentação, coagulação, auto-imunidade e homocisteína
com valores dentro da normalidade. Efetuado estudo genético de trombofilias, apresentando mutação do gene da protrombina (G20210A, em heterozigotia) e mutações do PAI-1 (4G e -844A), associadas a estado de hipercoagulabilidade, com indicação para profilaxia com heparina de baixo peso molecular em situações de maior risco.
Discussão/Conclusão: A raridade do evento tromboembólico, associada à localização atípica do quadro inaugural, conduziu a uma investigação exaustiva. As alterações da trombofilia podem ter a sua manifestação inicial na adolescência, sendo importante a sua deteção pelas implicações no dia-a-dia do
indivíduo e necessidade de atitudes profiláticas em situações particulares.
Introduction: Venous thromboembolism is rare among children and has a multi-factorial aetiology. It’s important to establish the diagnosis and evaluate the functional prognosis. Case report: A previously healthy 11 year old adolescent was observed in the emergency room with clinical signs of superficial venous thrombosis of the upper limb. Laboratorial evaluation showed a sedimentation rate, coagulation study, autoimmune antibodies and homocysteine with normal values. Testing for heritable thrombophilia revealed prothrombin mutation (G20210A, heterozigosity) and mutation of PAI-1 (4G e -844A), both of which are associated with hypercoagulable state and indication to do prophylaxis with low molecular weight heparin in higher risk situations. Discussion/Conclusion: The rarity of thromboembolic events at this age and the atypical localization lead to an exhaustive laboratorial evaluation. Thrombophilia mutations may clinically become evident in adolescence, and its detection is important because of children’s lifestyle and the need of prophylactic treatment in some situations.
Introduction: Venous thromboembolism is rare among children and has a multi-factorial aetiology. It’s important to establish the diagnosis and evaluate the functional prognosis. Case report: A previously healthy 11 year old adolescent was observed in the emergency room with clinical signs of superficial venous thrombosis of the upper limb. Laboratorial evaluation showed a sedimentation rate, coagulation study, autoimmune antibodies and homocysteine with normal values. Testing for heritable thrombophilia revealed prothrombin mutation (G20210A, heterozigosity) and mutation of PAI-1 (4G e -844A), both of which are associated with hypercoagulable state and indication to do prophylaxis with low molecular weight heparin in higher risk situations. Discussion/Conclusion: The rarity of thromboembolic events at this age and the atypical localization lead to an exhaustive laboratorial evaluation. Thrombophilia mutations may clinically become evident in adolescence, and its detection is important because of children’s lifestyle and the need of prophylactic treatment in some situations.
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Keywords
Adolescência profilaxia trombofilia tromboflebite Adolescence prophylaxis thrombophilia thrombophlebitis
Citation
Nascer e Crescer 2014; 23(2): 83-86