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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...

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Autores principales: Boeriu, Estera, Arghirescu, Teodora Smaranda, Serban, Margit, Patrascu, Jenel Marian, Boia, Eugen, Jinca, Cristian, Schramm, Wolfgang, Traila, Adina, Ursu, Cristina Emilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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