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Challenges in the Diagnosis and Management of Non-Severe Hemophilia
(1) Background: Mild and moderate hemophilia, synonymous with non-severe hemophilia (NSH), are of constant interest for the clinicians. Bleeding occurs usually after trauma, injury, surgery, or inhibitor development, sometimes leading to a shift of the clinical phenotype from mild to severe, even wi...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9225229/ https://www.ncbi.nlm.nih.gov/pubmed/35743393 http://dx.doi.org/10.3390/jcm11123322 |
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author | Boeriu, Estera Arghirescu, Teodora Smaranda Serban, Margit Patrascu, Jenel Marian Boia, Eugen Jinca, Cristian Schramm, Wolfgang Traila, Adina Ursu, Cristina Emilia |
author_facet | Boeriu, Estera Arghirescu, Teodora Smaranda Serban, Margit Patrascu, Jenel Marian Boia, Eugen Jinca, Cristian Schramm, Wolfgang Traila, Adina Ursu, Cristina Emilia |
author_sort | Boeriu, Estera |
collection | PubMed |
description | (1) Background: Mild and moderate hemophilia, synonymous with non-severe hemophilia (NSH), are of constant interest for the clinicians. Bleeding occurs usually after trauma, injury, surgery, or inhibitor development, sometimes leading to a shift of the clinical phenotype from mild to severe, even with life-threatening and unexpected outcomes. (2) Methods: We performed a retrospective observational study conducted on 112 persons with congenital coagulopathies, 26 of them with NSH, admitted to our clinic in the period 2000 to 2022. For the diagnosis, we used laboratory studies (complete blood cell count, coagulation assays, biochemistry, thromboelastography, genetic tests) and imaging investigations (X-ray, ultrasound, CT, MRI). We selected four cases confronted with pitfalls of diagnosis and evolution in order to illustrate the sometimes provocative field of NSH. (3) Results: Confronted with challenging cases with under-, missed or delayed diagnosis and severe consequences, we aimed at presenting four such selected cases with mild or moderate hemophilia, real pitfalls in our clinical activity. (4) Conclusions: In the field of NSH, if not timely recognized, tending sometimes to remain ignored by caregivers and patients themselves, we can be confronted with challenging diagnostic situations and life-threatening bleeds. |
format | Online Article Text |
id | pubmed-9225229 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-92252292022-06-24 Challenges in the Diagnosis and Management of Non-Severe Hemophilia Boeriu, Estera Arghirescu, Teodora Smaranda Serban, Margit Patrascu, Jenel Marian Boia, Eugen Jinca, Cristian Schramm, Wolfgang Traila, Adina Ursu, Cristina Emilia J Clin Med Article (1) Background: Mild and moderate hemophilia, synonymous with non-severe hemophilia (NSH), are of constant interest for the clinicians. Bleeding occurs usually after trauma, injury, surgery, or inhibitor development, sometimes leading to a shift of the clinical phenotype from mild to severe, even with life-threatening and unexpected outcomes. (2) Methods: We performed a retrospective observational study conducted on 112 persons with congenital coagulopathies, 26 of them with NSH, admitted to our clinic in the period 2000 to 2022. For the diagnosis, we used laboratory studies (complete blood cell count, coagulation assays, biochemistry, thromboelastography, genetic tests) and imaging investigations (X-ray, ultrasound, CT, MRI). We selected four cases confronted with pitfalls of diagnosis and evolution in order to illustrate the sometimes provocative field of NSH. (3) Results: Confronted with challenging cases with under-, missed or delayed diagnosis and severe consequences, we aimed at presenting four such selected cases with mild or moderate hemophilia, real pitfalls in our clinical activity. (4) Conclusions: In the field of NSH, if not timely recognized, tending sometimes to remain ignored by caregivers and patients themselves, we can be confronted with challenging diagnostic situations and life-threatening bleeds. MDPI 2022-06-09 /pmc/articles/PMC9225229/ /pubmed/35743393 http://dx.doi.org/10.3390/jcm11123322 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Boeriu, Estera Arghirescu, Teodora Smaranda Serban, Margit Patrascu, Jenel Marian Boia, Eugen Jinca, Cristian Schramm, Wolfgang Traila, Adina Ursu, Cristina Emilia Challenges in the Diagnosis and Management of Non-Severe Hemophilia |
title | Challenges in the Diagnosis and Management of Non-Severe Hemophilia |
title_full | Challenges in the Diagnosis and Management of Non-Severe Hemophilia |
title_fullStr | Challenges in the Diagnosis and Management of Non-Severe Hemophilia |
title_full_unstemmed | Challenges in the Diagnosis and Management of Non-Severe Hemophilia |
title_short | Challenges in the Diagnosis and Management of Non-Severe Hemophilia |
title_sort | challenges in the diagnosis and management of non-severe hemophilia |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9225229/ https://www.ncbi.nlm.nih.gov/pubmed/35743393 http://dx.doi.org/10.3390/jcm11123322 |
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