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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| Format: | Article |
| Language: | English |
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MDPI AG
2022-06-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/11/12/3322 |
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| author | Estera Boeriu Teodora Smaranda Arghirescu Margit Serban Jenel Marian Patrascu Eugen Boia Cristian Jinca Wolfgang Schramm Adina Traila Cristina Emilia Ursu |
| author_facet | Estera Boeriu Teodora Smaranda Arghirescu Margit Serban Jenel Marian Patrascu Eugen Boia Cristian Jinca Wolfgang Schramm Adina Traila Cristina Emilia Ursu |
| author_sort | Estera Boeriu |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-09T23:28:05Z |
| format | Article |
| id | doaj.art-36e63528db3442f8a1eed09cb151d255 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T23:28:05Z |
| publishDate | 2022-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-36e63528db3442f8a1eed09cb151d2552023-11-23T17:14:05ZengMDPI AGJournal of Clinical Medicine2077-03832022-06-011112332210.3390/jcm11123322Challenges in the Diagnosis and Management of Non-Severe HemophiliaEstera Boeriu0Teodora Smaranda Arghirescu1Margit Serban2Jenel Marian Patrascu3Eugen Boia4Cristian Jinca5Wolfgang Schramm6Adina Traila7Cristina Emilia Ursu8Department of Pediatrics, Division of Onco-Hematology, Victor Babes University of Medicine and Pharmacy Timisoara, 300041 Timisoara, RomaniaDepartment of Pediatrics, Division of Onco-Hematology, Victor Babes University of Medicine and Pharmacy Timisoara, 300041 Timisoara, RomaniaOnco-Hematology Research Unit, Romanian Academy of Medical Sciences, Children Emergency Hospital “Louis Turcanu” Timisoara, European Hemophilia Treatment Centre, 300011 Timisoara, RomaniaDepartment of Orthopedics, Victor Babes University of Medicine and Pharmacy Timisoara, 300041 Timisoara, RomaniaDepartment of Pediatric Surgery, Victor Babes University of Medicine and Pharmacy Timisoara, 300041 Timisoara, RomaniaDepartment of Pediatrics, Division of Onco-Hematology, Victor Babes University of Medicine and Pharmacy Timisoara, 300041 Timisoara, RomaniaLudwig-Maximilians University (LMU) Rudolf Marx Stiftung Munich, 80539 München, GermanyMedical Centre for Evaluation Therapy, Medical Education and Rehabilitation of Children and Young Adults, European Hemophilia Treatment Centre, 305100 Buzias, RomaniaOnco-Hematology Research Unit, Romanian Academy of Medical Sciences, Children Emergency Hospital “Louis Turcanu” Timisoara, European Hemophilia Treatment Centre, 300011 Timisoara, Romania(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.https://www.mdpi.com/2077-0383/11/12/3322non-severe hemophiliasurgeryanti-FVIII antibodiesvon Willebrand disease |
| spellingShingle | Estera Boeriu Teodora Smaranda Arghirescu Margit Serban Jenel Marian Patrascu Eugen Boia Cristian Jinca Wolfgang Schramm Adina Traila Cristina Emilia Ursu Challenges in the Diagnosis and Management of Non-Severe Hemophilia Journal of Clinical Medicine non-severe hemophilia surgery anti-FVIII antibodies von Willebrand disease |
| 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 | non-severe hemophilia surgery anti-FVIII antibodies von Willebrand disease |
| url | https://www.mdpi.com/2077-0383/11/12/3322 |
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