Jornal Vascular Brasileiro
https://jvascbras.org/article/doi/10.1590/1677-5449.190096
Jornal Vascular Brasileiro
Case Report

Trombose arterial recorrente em paciente com doença de Fabry: relato de caso

Recurrent arterial thrombosis in a patient with Fabry disease: case report

Altino Ono Moraes; Tiago Francisco Meleiro Zubiolo; Augusto Felipe Bruchez Brito; Jessica Belentani; Juliano Fabrício Santos Neto; Gisele Nayara dos Santos; Lóren Fontinhas Faccin; Luanna Gabarrão Silva

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Resumo

Resumo: A doença de Fabry é definida como uma doença rara de depósito lisossomal ligada ao cromossomo X que apresenta sintomas multissistêmicos, incluindo comprometimento vascular com eventos trombóticos. Paciente do sexo feminino, 57 anos, com diagnóstico de doença de Fabry há 11 anos, apresentava hiperidrose, hipoacusia e angioqueratoma nas mãos. Na história patológica pregressa, relatou episódio de acidente vascular encefálico isquêmico prévio aos 40 anos de idade e trombose arterial crônica agudizada em membro inferior direito há 1 ano, a qual foi tratada por meio de angioplastia com uso de stent, apresentando melhora temporária e recente recidiva do quadro. Os eventos trombóticos se enquadram nos sintomas típicos da doença de Fabry, e são resultantes do depósito de globotriaosilceramida no endotélio vascular, implicando em um estado pró-trombótico, justificando a reincidência dos sintomas e da trombose arterial em membro inferior.

Palavras-chave

doença de Fabry, cromossomo X, alfa-galactosidase

Abstract

Fabry disease is a rare disease, defined as an X-linked lysosomal deposition disease that presents with multisystemic symptoms, including vascular impairment with thrombotic events. A 57-year-old female patient diagnosed with Fabry disease 11 years previously, presented with hyperhidrosis, hypoacusis, and angiokeratoma on the hands. Her previous pathological history included an episode of ischemic stroke before the age of 40 years and chronic acute thrombosis in the right lower limb, 1 year previously, which had been treated with stent angioplasty, with temporary improvement followed by recent relapse of the condition. Thrombotic events fit the typical symptoms of Fabry disease and are caused by deposition of globotriaosylceramide in the vascular endothelium, constituting a prothrombotic state and explaining the recurrence of symptoms and arterial thrombosis in the lower limb.

Keywords

Fabry disease; X chromosome; alpha-galactosidase.

References

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