4G/5G polymorphism of the PAI-1 gene in a patient with chronic pain. Case report with expanded management following genetic diagnosis

Ana Carolina Silva Rocha; João Batista Santos Garcia

doi:10.63231/2595-0118.202661-en

Relato de Caso

4G/5G polymorphism of the PAI-1 gene in a patient with chronic pain. Case report with expanded management following genetic diagnosis

Polimorfismo 4G/5G do gene PAI-1 em paciente com dor crônica. Relato de caso com conduta ampliada a partir do diagnóstico genético

Ana Carolina Silva Rocha; João Batista Santos Garcia

http://dx.doi.org/10.63231/2595-0118.202661-en BrJP, vol.9, e202661, 2026

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Abstract

BACKGROUND AND OBJECTIVES: Vascular and bone disorders may underlie chronic pain syndromes that are difficult to manage and may be associated with predisposing genetic alterations. The PAI-1 gene polymorphism promotes a prothrombotic state that favors the development of local vascular thrombosis, such as osteonecrosis. Thus, this study aims to report a case of chronic pain associated with the 4G/5G polymorphism of the PAI-1 gene.

CASE REPORT: A 29-year-old male patient with complaints of difficult-to-control bone pain for over 10 years and osteonecrosis of the femur and tibia, with no defined etiology. He had a history of five episodes of acute myocardial infarction and episodes of sudden-onset dyspnea, initially attributed to possible pulmonary embolism, without a confirmed cause. Extensive investigations were conducted until his referral to the Chronic Pain Clinic, where a genetic disorder was suspected, and specific testing was requested. The results confirmed the presence of the 4G/5G polymorphism in the PAI-1 gene, clarifying the predisposition to thrombotic events throughout his life and the intense pain in the knee and hip regions. The patient continued anticoagulant therapy under the care of the hematology team and remained under ongoing treatment for pain management at the Chronic Pain Clinic of HUUFMA.

CONCLUSION: Prolonged and difficult-to-control pain may manifest as a consequence of the 4G/5G polymorphism in the PAI-1 gene, which is associated with a predisposition to thrombotic events such as osteonecrosis. This association highlights the relevance of genetic factors in the management of chronic pain.

Keywords

Case report; Chronic pain; Osteonecrosis; Plasminogen activator inhibitor-1; Thrombosis

Resumo

JUSTIFICATIVA E OBJETIVOS: Distúrbios vasculares e ósseos podem ser responsáveis por quadros de dor crônica de difícil controle e estar associados a alterações genéticas predisponentes. No polimorfismo do gene do PAI-1 há a formação de um estado protrombótico que favorece o desenvolvimento de trombose vascular local, como a osteonecrose. Assim, este estudo tem como objetivo relatar um caso de dor crônica associada ao polimorfismo 4G/5G do gene PAI-1.

RELATO DO CASO: Paciente do sexo masculino, 29 anos, apresentando queixas de dores ósseas de difícil controle há mais de 10 anos e osteonecrose no fêmur e na tíbia, sem etiologia definida. Possuía histórico de cinco episódios de infarto agudo do miocárdio e de dispneia súbita, inicialmente atribuída a uma possível embolia pulmonar, sem causa definida. Realizou-se uma intensa investigação até a chegada ao ambulatório de Dor Crônica, onde surgiu a suspeita de doença genética e solicitou-se a realização de exame específico. Após o resultado, confirmou-se o polimorfismo 4G/5G do gene PAI-1, esclarecendo a predisposição a episódios trombóticos ao longo de sua vida e a dor intensa na região de joelhos e quadril. O paciente seguiu em tratamento com anticoagulantes pela equipe de hematologia e foi mantido em tratamento contínuo do quadro álgico no Ambulatório de Dor Crônica do HUUFMA.

CONCLUSÃO: A dor prolongada de difícil controle surge como uma manifestação do polimorfismo 4G/5G do gene PAI-1, associada à predisposição a eventos trombóticos, como a osteonecrose. Assim, essa associação ressalta a relevância de fatores genéticos no manejo da dor crônica.

Palavras-chave

Dor crônica; Inibidor 1 de ativador de plasminogênio; Osteonecrose; Relato de caso; Trombose

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Submetido em:
28/05/2025

Aceito em:
03/02/2026

4G/5G polymorphism of the PAI-1 gene in a patient with chronic pain. Case report with expanded management following genetic diagnosis

Polimorfismo 4G/5G do gene PAI-1 em paciente com dor crônica. Relato de caso com conduta ampliada a partir do diagnóstico genético

Ana Carolina Silva Rocha; João Batista Santos Garcia

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