Diagnosis of Paroxysmal Nocturnal Hemoglobinuria in a pregnant woman with thrombocytopenia for 04 years: Case Report
DOI:
https://doi.org/10.33448/rsd-v11i12.34821Keywords:
Paroxysmal Hemoglobinuria; Pregnancy; Thrombocytopenia.Abstract
Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare clonal somatic exchange disorder manifested by a stem cell disorder with clinical features of hemolytic anemia, bone marrow deficiency and thromboembolism. The disease affects both sexes, with a higher prevalence after 40 years old and an incidence of 1 event in a million people, an affection that is rare and little reported in the literature, a fact observed even more in pregnant women. The aim of this study is to report the case of a young, pregnant patient who had been suffering from idiopathic thrombocytopenia for 4 years and was diagnosed as Paroxysmal Nocturnal Hemoglobinuria (PNH) during pregnancy. The information was obtained through medical records review, complementary exam records, and literature review. The young pregnant woman presented with mild anemia, persistent thrombocytopenia and recurrent urinary infection throughout the gestational period, and despite being diagnosed with thrombocytopenia in the third trimester, still had a favorable gestational outcome.
References
Almeida, D. R., Cichota, L. M., Bottega, L. M., Silva, L. V. P. (2020). Hemoglobinúria Paroxística noturna: relato de caso clínico com pancitopenia. Hematology, Transfusion and Cell Therapy, 42(S2), 7-8. https://doi.org/10.1016/j.htct.2020.10.013
Al-Dosari, Y. M., Al-Zahrani, H., Al-Mohareb, F., & Hashmi, S. (2021). Pregnancy with Paroxysmal Nocturnal Hemoglobinuria: A Case Series with Review of the literature. Saudi journal of medicine & medical sciences, 9(2), 178–189. doi: 10.4103/sjmms.sjmms_4_20.
Brodsky, R. A. (2009). How I treat paroxysmal nocturnal hemoglobinuria. Blood, 113(26), 6522-6527. doi: 10.1182/blood-2009-03-195966.
Brodsky, R. A. (2014). Paroxysmal nocturnal hemoglobinuria. Blood, 124, 2804-2811. doi: 10.1182/blood-2014-02-522128
Brodsky, R. A. (2021). How I treat paroxysmal nocturnal hemoglobinuria. Blood, 137(10), 1304-1309. https://doi.org/10.1182/blood.2019003812.
Conitec. (2021). Relatório para Sociedade – Citometria de fluxo para diagnóstico de hemoglobinúria Paroxística Noturna. https://www.gov.br/conitec/pt-br/midias/consultas/relatorios/2019/sociedade/resoc173_citometria_hpn_final.pdf.
Fassett, M. J., Lopez, A. L. H. (2021). Treatment of paroxysmal nocturnal hemoglobinuria in pregnancy with eculizumab: A case report. Case Rep Womens Health, 30, Article e00294. doi: 10.1016/j.crwh.2021.e00294.
Fiocruz. (2022). Artigo aborda as características e os desafios das doenças raras. https://portal.fiocruz.br/noticia/artigo-aborda-caracteristicas-e-os-desafios-das-doencas-raras.
Guibert, S., Peffault de Latour, R., Varoqueaux, N., Labussiere, H., Rio, H., Jaulmes, D., Eveillard, J. R., Dulucq, S., Stoppa, A. M., Bouscary, D., Girodon, F., Bonnotte, B., Socié, G., Lamy, T. (2009). Paroxysmal Nocturnal Hemoglobinuria And Pregnancy: the french experience. Blood, 144 (22), 1984. https://doi.org/10.1182/blood.V114.22.1984.1984.
Higgins, S. P., McMahon, L. P., Brennecke, S.P.(2009). Paroxysmal nocturnal heamoglobinuria in pregnancy – not to be confused with pre- eclampsia or HELLP syndrome. Case report and literature review. J of Obstetrics and Gynaecology, 47, 83-85.https://doi.org/10.1080/01443610310001627155.
Hillmen, P., Lewis, S. M., Bessler, M., Luzzatto, L., Dacie, J. V. Natural History of Paroxysmal Nocturnal Hemoglobinuria. (1995). N Engl J Med, 333, 1252-1258. DOI: 10.1056/NEJM199511093331904.
Hillmen, P., Muus, P., Roth, A., Elebute, M. O., Risitano, A. M., Schrezenmeier, H., Szer, J., Browne, P., Maciejewski, J. P., Schubert, J., Urbano-Ispizua, A., de Castro, C., Socié, G., & Brodsky, R. A. (2013). Long-term safety and efficacy of sustained eculizumab treatment in patients with paroxysmal nocturnal haemoglobinuria. British journal of haematology, 162, 62-73. doi: 10.1111/bjh.12347.
Kelly, R. J., Hochsmann, B., Kulasekararaj, A., Guilbert, S., Roth, A., Weitz, I. C., Armstrong, E., Hill, A., Risitano, A. M., Patriquin C. J., Terriou, L., Muss, P., Turner, M. P., Schrezenmeier, H. Szar, J., LatouR, R. P. (2014). Eculizumab Treatment Improves Outcomes of Pregnancy in Patients with Paroxysmal Nocturnal Hemoglobinuria. Blood, 124 (21), 4393. https://doi.org/10.1182/blood.V124.21.4393.4393.
Montenegro, C. A. B., Pritsivelis, C., Resende-Filho, J. (2018). Trombocitopenia na gravidez. Femina, 46(3), 190-196. https://docs.bvsalud.org/biblioref/2020/02/1050120/femina-2018-463-190-196.pdf#:~:text=A%20trombocitopenia%20na%20mulher%20gr%C3%A1vida,7%2D12%25%20das%20gesta%C3%A7%C3%B5es.
Parker, C., Omine, M., Richards, S., Nishimura, J., Bessler, M., Ware, R., Hillmen, P., Luzzatto, L., Young, N., Kinoshita, T., Rosse, W., Socié, G. (2005). Diagnosis and management of paroxysmal nocturnal hemoglobinúria. Blood,106, 3699-3709. doi: 10.1182/blood-2005-04-1717.
Pereira, A. S., et al. (2018). Metodologia da pesquisa científica. UFSM. https://www.ufsm.br/app/uploads/sites/358/2019/02/Metodologia-da-Pesquisa-Cientifica_final.pdf
Silva, F. L., Reis, E. J., Moreira, M. E. S., Ries, P. K., Moraes, M., Goedert, G. (2020). Hemoglobinúria paroxística noturna – relato de caso em pediatria.Hematology, TransfusionandCellTherapy,42(S2),313-314.https://doi.org/10.1016/j.htct.2020.10.521.
Stratton, J., Bonnar, J., Turner, M. J. (2009). Paroxysmal nocturnal hemoglobinuria in pregnancy. J of Obstetrics and Gynaecology, 13, 254-255).https://doi.org/10.3109/01443619309151854.
Szlendak, U., Budziszewska, B., Spychalska, J., Drozd-Sokolowka, J., Patkowska, E., Nowak, j. (2022). Paroxysmal nocturnal hemoglobinuria: advances in the understanding of pathophysiology, diagnosis, and treatment. Pol Arch Intern Med, 132(6), 16271. doi:10.20452/pamw.16271
TelessaúdeRS. (2019). Quais são as causas de trombocitopenia na gestação e qual a conduta recomendada?.https://www.ufrgs.br/telessauders/perguntas/quais-sao-as-causas-de-trombocitopenia-na-gestacao-e-qual-conduta-recomendada/.
Usuki, K., Urabe, A., Kawaguchi, T., Miyasaka, N., Miura, O., Morishita, E., Arima, N., Morita, Y., Nishiwaki, K., Ninomiya, H., Gotoh, A., Imashuku, S., Shichishima, T., Nishimura, J., Kanakura, Y. (2013). Management of pregnancy in paroxysmal nocturnal hemoglobinuria (PNH): a report of 10 cases from the working group on pregnancy of The Japan PNH StudyGroup. Blood, 122(21), 2480. https://doi.org/10.1182/blood.V122.21.2480.2480.
Villegas, A., Arrizabalaga, B., Bonanad, S., Colado, E., Gaya, A., González, A., Jarque, I., Nunez, R., Ojeda, E., Orfao, A., Ribera, J. M., Vicente, V., Urbano-Ispizua, A. (2016). Consenso español para el diagnóstico y tratamiento de la hemoglobinuria paroxística nocturna. Medicina Clínica, 146(6),278.e1-278.e7.https://doi.org/10.1016/j.medcli.2015.12.012.
Vinogradova, M. A., Fedorova, T. A., Strelnikova, E. V., Rogachevsky, O.,Shmalov, R. G., Polushkina, E. S. (2014). Anemia during the Pregnancy: The Management and outcomes depending on the Etiology. Blood, 124(21), 4830. https://doi.org/10.1182/blood.V124.21.4830.4830.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2022 Maria Theresa Iório Venturi; Gabriel Máximo Ferreira; Jaqueline Brandão Guerreiro Marotti
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.