Paroxysmal nocturnal hemoglobinuria: Pandora’s box?
Introduction. Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired non-malignant hematological disorder which affects the pluripotent hematopoietic stem cell. The cause of PNH development is the occurrence of somatic mutations in the phosphatidylinositol glycan-A gene which encodes a protein nec...
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| Format: | Article |
| Language: | English |
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Ion Motofei, Carol Davila University
2020-10-01
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| Series: | Journal of Mind and Medical Sciences |
| Subjects: | |
| Online Access: | https://scholar.valpo.edu/cgi/viewcontent.cgi?article=1253&context=jmms |
| _version_ | 1819015790507065344 |
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| author | Mihnea-Alexandru Găman Iulia Ursuleac Daniel Coriu |
| author_facet | Mihnea-Alexandru Găman Iulia Ursuleac Daniel Coriu |
| author_sort | Mihnea-Alexandru Găman |
| collection | DOAJ |
| description | Introduction. Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired non-malignant hematological disorder which affects the pluripotent hematopoietic stem cell. The cause of PNH development is the occurrence of somatic mutations in the phosphatidylinositol glycan-A gene which encodes a protein necessary for the biosynthesis of glycosylphosphatidylinositol anchors. The diagnosis of PNH requires the presence of signs of intravascular hemolysis, thrombosis, and (or) bone marrow failure. Case Report. We report the case of a 42-year-old female, diagnosed with PNH at the age of 27, whose evolution was initially characterized predominantly by hemolytic attacks and whose disease pattern evolved towards thromboembolic episodes with the advancement of age. Conclusions. Establishing the diagnosis of PNH is a difficult task and its management requires teamwork. During the evolution of the disease, a PNH patient can acquire supplementary risk factors for thrombosis, in addition to the pro-coagulant potential of the disease itself. We reported this case to remind physicians that establishing the diagnosis of PNH is troublesome, and thus it is questionable whether PNH is a rare disease or just underdiagnosed. In this context, in the clinical practice of hematologists and other physicians as well, PNH remains a veritable Pandora's box. |
| first_indexed | 2024-12-21T02:37:20Z |
| format | Article |
| id | doaj.art-8eae8b81a8ae4c61869e745db7a64867 |
| institution | Directory Open Access Journal |
| issn | 2392-7674 2392-7674 |
| language | English |
| last_indexed | 2024-12-21T02:37:20Z |
| publishDate | 2020-10-01 |
| publisher | Ion Motofei, Carol Davila University |
| record_format | Article |
| series | Journal of Mind and Medical Sciences |
| spelling | doaj.art-8eae8b81a8ae4c61869e745db7a648672022-12-21T19:18:45ZengIon Motofei, Carol Davila UniversityJournal of Mind and Medical Sciences2392-76742392-76742020-10-017224524910.22543/7674.72.P245249Paroxysmal nocturnal hemoglobinuria: Pandora’s box?Mihnea-Alexandru Găman0Iulia Ursuleac1Daniel Coriu2CAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY, FACULTY OF GENERAL MEDICINE, BUCHAREST, ROMANIACAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY, FACULTY OF GENERAL MEDICINE, BUCHAREST, ROMANIACAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY, FACULTY OF GENERAL MEDICINE, BUCHAREST, ROMANIAIntroduction. Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired non-malignant hematological disorder which affects the pluripotent hematopoietic stem cell. The cause of PNH development is the occurrence of somatic mutations in the phosphatidylinositol glycan-A gene which encodes a protein necessary for the biosynthesis of glycosylphosphatidylinositol anchors. The diagnosis of PNH requires the presence of signs of intravascular hemolysis, thrombosis, and (or) bone marrow failure. Case Report. We report the case of a 42-year-old female, diagnosed with PNH at the age of 27, whose evolution was initially characterized predominantly by hemolytic attacks and whose disease pattern evolved towards thromboembolic episodes with the advancement of age. Conclusions. Establishing the diagnosis of PNH is a difficult task and its management requires teamwork. During the evolution of the disease, a PNH patient can acquire supplementary risk factors for thrombosis, in addition to the pro-coagulant potential of the disease itself. We reported this case to remind physicians that establishing the diagnosis of PNH is troublesome, and thus it is questionable whether PNH is a rare disease or just underdiagnosed. In this context, in the clinical practice of hematologists and other physicians as well, PNH remains a veritable Pandora's box.https://scholar.valpo.edu/cgi/viewcontent.cgi?article=1253&context=jmmsparoxysmal nocturnal hemoglobinuriaintravascular hemolysisthrombosis in unusual sitesstrokeeculizumab |
| spellingShingle | Mihnea-Alexandru Găman Iulia Ursuleac Daniel Coriu Paroxysmal nocturnal hemoglobinuria: Pandora’s box? Journal of Mind and Medical Sciences paroxysmal nocturnal hemoglobinuria intravascular hemolysis thrombosis in unusual sites stroke eculizumab |
| title | Paroxysmal nocturnal hemoglobinuria: Pandora’s box? |
| title_full | Paroxysmal nocturnal hemoglobinuria: Pandora’s box? |
| title_fullStr | Paroxysmal nocturnal hemoglobinuria: Pandora’s box? |
| title_full_unstemmed | Paroxysmal nocturnal hemoglobinuria: Pandora’s box? |
| title_short | Paroxysmal nocturnal hemoglobinuria: Pandora’s box? |
| title_sort | paroxysmal nocturnal hemoglobinuria pandora s box |
| topic | paroxysmal nocturnal hemoglobinuria intravascular hemolysis thrombosis in unusual sites stroke eculizumab |
| url | https://scholar.valpo.edu/cgi/viewcontent.cgi?article=1253&context=jmms |
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