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Rare Hematological Disease of Paroxysmal Nocturnal Hemoglobinuria With Profound Implications for a Gastroenterologist: A Case Report and Literature Review
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare type of thrombophilia and hematopoietic stem cell disorder characterized by mutation of the X-linked PIG-A gene. Patients with PNH present either with clinical features of intravascular hemolysis or thrombosis. Visceral vein thrombosis is associate...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331906/ https://www.ncbi.nlm.nih.gov/pubmed/32637290 http://dx.doi.org/10.7759/cureus.8941 |
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author | Parvataneni, Swetha Sunkara, Tagore Gaduputi, Vinaya |
author_facet | Parvataneni, Swetha Sunkara, Tagore Gaduputi, Vinaya |
author_sort | Parvataneni, Swetha |
collection | PubMed |
description | Paroxysmal nocturnal hemoglobinuria (PNH) is a rare type of thrombophilia and hematopoietic stem cell disorder characterized by mutation of the X-linked PIG-A gene. Patients with PNH present either with clinical features of intravascular hemolysis or thrombosis. Visceral vein thrombosis is associated with increased mortality risk. Here, we present an extremely rare case of a young man presenting with extensive thrombosis of multiple visceral veins from PNH. |
format | Online Article Text |
id | pubmed-7331906 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-73319062020-07-06 Rare Hematological Disease of Paroxysmal Nocturnal Hemoglobinuria With Profound Implications for a Gastroenterologist: A Case Report and Literature Review Parvataneni, Swetha Sunkara, Tagore Gaduputi, Vinaya Cureus Internal Medicine Paroxysmal nocturnal hemoglobinuria (PNH) is a rare type of thrombophilia and hematopoietic stem cell disorder characterized by mutation of the X-linked PIG-A gene. Patients with PNH present either with clinical features of intravascular hemolysis or thrombosis. Visceral vein thrombosis is associated with increased mortality risk. Here, we present an extremely rare case of a young man presenting with extensive thrombosis of multiple visceral veins from PNH. Cureus 2020-07-01 /pmc/articles/PMC7331906/ /pubmed/32637290 http://dx.doi.org/10.7759/cureus.8941 Text en Copyright © 2020, Parvataneni et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Internal Medicine Parvataneni, Swetha Sunkara, Tagore Gaduputi, Vinaya Rare Hematological Disease of Paroxysmal Nocturnal Hemoglobinuria With Profound Implications for a Gastroenterologist: A Case Report and Literature Review |
title | Rare Hematological Disease of Paroxysmal Nocturnal Hemoglobinuria With Profound Implications for a Gastroenterologist: A Case Report and Literature Review |
title_full | Rare Hematological Disease of Paroxysmal Nocturnal Hemoglobinuria With Profound Implications for a Gastroenterologist: A Case Report and Literature Review |
title_fullStr | Rare Hematological Disease of Paroxysmal Nocturnal Hemoglobinuria With Profound Implications for a Gastroenterologist: A Case Report and Literature Review |
title_full_unstemmed | Rare Hematological Disease of Paroxysmal Nocturnal Hemoglobinuria With Profound Implications for a Gastroenterologist: A Case Report and Literature Review |
title_short | Rare Hematological Disease of Paroxysmal Nocturnal Hemoglobinuria With Profound Implications for a Gastroenterologist: A Case Report and Literature Review |
title_sort | rare hematological disease of paroxysmal nocturnal hemoglobinuria with profound implications for a gastroenterologist: a case report and literature review |
topic | Internal Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331906/ https://www.ncbi.nlm.nih.gov/pubmed/32637290 http://dx.doi.org/10.7759/cureus.8941 |
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