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
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.
1 Boggio P, Luna PC, Abad ME, Larralde M. Fabry disease. An Bras Dermatol. 2009;84(4):367-76.
2 Chan B, Adam DN. A review of Fabry disease. Skin Therapy Lett. 2018;23(2):4-6. PMid:29562089.
3 Utsumi K, Ueda K, Watanabe M, et al. Thrombosis in Japanese patients with Fabry disease. J Neurol Sci. 2009;283(1-2):83-5.
4 Rob D, Karetova D, Golan L, Rucka D, Linhart A. Complex vascular involvement in Fabry disease: an unusual case of combined critical lower limb ischemia and deep vein thrombosis. Int J Cardiovasc Res. 2016;5(02):2.
5 Rombach SM, Twickler TB, Aerts JM, Linthorst GE, Wijburg FA, Hollak CE. Vasculopathy in patients with Fabry disease: current controversies and research directions. Mol Genet Metab. 2010;99(2):99-108.
6 Eitzman DT, Bodary PF, Shen Y, et al. Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis. J Am Soc Nephrol. 2003;14(2):298-302.
7 Lenders M, Karabul N, Duning T, et al. Thromboembolic events in Fabry disease and the impact of factor V Leiden. Neurology. 2015;84(10):1009-16.
8 Schiffmann R, Rapkiewicz A, Abu-Asab M, et al. Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch. 2006;448(3):337-43.