Paroxysmal Nocturnal Hemoglobinuria: An Unusual Suspect

Authors

  • Mariana Rita Mesquita Silva Estrela Santos Unidade Saúde Local Gaia Espinho
  • Raquel Dias Moura Unidade Saúde Local Gaia Espinho
  • Francisca Carmo Unidade Saúde Local Gaia Espinho
  • Paula Ferreira Unidade Saúde Local Gaia Espinho
  • Inês Rueff Rato Unidade Saúde Local Gaia Espinho

DOI:

https://doi.org/10.60591/crspmi.284

Keywords:

Hemoglobinuria, Paroxysmal/complications, Hemoglobinuria, Paroxysmal/diagnosis, Hemolysis, Pancytopenia, Thrombosis

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and underdiagnosed acquired hematopoietic stem cell disease, which can be revealed by intravascular hemolysis, thrombosis and secondary bone marrow failure. A delay on diagnosis could be due to a multiplicity of symptoms and clinical presentations, requiring a high clinical suspicion. The authors describe a case of PNH with a variety of clinical presentations, typical and atypical, leading to diagnosis. The increasing awareness of these presentations makes possible a future quickly identification and diagnosis of this rare condition.

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References

Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995;333:1253-8. doi: 10.1056/NEJM199511093331904.

Socié G, Mary JY, de Gramont A, Rio B, Leporrier M, Rose C, et al. Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. French Society of Haematology. Lancet. 1996;348:573-7. doi: 10.1016/s0140-6736(95)12360-1.

Valla D, Dhumeaux D, Babany G, Hillon P, Rueff B, Rochant H. et al. Hepatic vein thrombosis in paroxysmal nocturnal hemoglobinuria. A spectrum from asymptomatic occlusion of hepatic venules to fatal Budd-Chiari syndrome. Gastroenterology. 1987;93:569-75.

Adams T, Fleischer D, Marino G, Rusnock E, Li L. Gastrointestinal involvement in paroxysmal nocturnal hemoglobinuria: first report of electron microscopic findings. Dig Dis Sci. 2002;47:58-64. doi: 10.1023/a:1013207318697.

Torres J, De Vroey B, Noël MP, Notteghem B, Colombel JF. Recurrent small bowel ischemia in a patient with paroxysmal nocturnal hemoglobinuria. Nat Rev Gastroenterol Hepatol. 2010;7:410-4. doi: 10.1038/nrgastro.2010.59.

Williamson LM, Johnstone JM, Preston FE. Microvascular thrombosis of the bowel in paroxysmal nocturnal haemoglobinuria. J Clin Pathol. 1987;40:930-1. doi: 10.1136/jcp.40.8.930-c.

Quentin V, Dinasquet M, Rioux-Leclercq N, de Lajarte-Thirouard AS, Lotrian D, Lamy T, et al. Hémoglobinurie paroxystique nocturne avec PAROXYSMAL NOCTURNAL HEMOGLOBINURIA: AN UNUSUAL SUSPECT ischémie digestive compliquée de perforation de l'intestin grêle. Gastroenterol Clin Biol. 2003;27:927-31.

Doukas MA, DiLorenzo PE, Mohler DN. Intestinal infarction caused by paroxysmal nocturnal hemoglobinuria. Am J Hematol. 1984;16:75-81. doi: 10.1002/ajh.2830160110.

Ramus J, McPherson GA. Recurrent bowel infarction in paroxysmal nocturnal haemoglobinuria. J R Soc Med. 2003;96:406-7. doi:10.1177/014107680309600814.

Quinquenel A, Maestraggi Q, Lecoq-Lafon C, Régis PL, Delmer A, Servettaz A. Atypical presentation of paroxysmal nocturnal hemoglobinuria treated by eculizumab: A case report. Medicine. 2017;96:e6403. doi: 10.1097/MD.0000000000006403. Erratum in: Medicine. 2017;96:e6706. doi: 10.1097/MD.0000000000006706.

Published

01-08-2025

How to Cite

Mesquita Silva Estrela Santos, M. R., Raquel Dias Moura, Francisca Carmo, Paula Ferreira, & Inês Rueff Rato. (2025). Paroxysmal Nocturnal Hemoglobinuria: An Unusual Suspect. SPMI Case Reports, 3(2), 46–50. https://doi.org/10.60591/crspmi.284

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Casos Clínicos

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