VHrare study: Prevalence, clinical features and management of severe rare bleeding disorders in a large cohort
Abstract Introduction: Rare bleeding disorders (RBD) constitute 5% of total hereditary bleeding disorders, although the number could be higher, due to the presence of undiagnosed asymptomatic patients. The objective of this study was to analyze the prevalence and characteristics of patients with sev...
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| Format: | Article |
| Language: | English |
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Wiley
2023-05-01
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| Series: | eJHaem |
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| Online Access: | https://doi.org/10.1002/jha2.664 |
| _version_ | 1797740068632264704 |
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| author | Olga Benítez Hidalgo Maria Fernanda Martinez Garcia Irene Corrrales Insa Mariana Fernández‐Caballero Lorena Ramírez Orihuela Vicente Cortina Giner Natàlia Comes Fernández Juan Carlos Juarez Gimenez |
| author_facet | Olga Benítez Hidalgo Maria Fernanda Martinez Garcia Irene Corrrales Insa Mariana Fernández‐Caballero Lorena Ramírez Orihuela Vicente Cortina Giner Natàlia Comes Fernández Juan Carlos Juarez Gimenez |
| author_sort | Olga Benítez Hidalgo |
| collection | DOAJ |
| description | Abstract Introduction: Rare bleeding disorders (RBD) constitute 5% of total hereditary bleeding disorders, although the number could be higher, due to the presence of undiagnosed asymptomatic patients. The objective of this study was to analyze the prevalence and characteristics of patients with severe RBDs in our area. Material and methods: We analyzed the patients with RBD followed at a tertiary‐level hospital between January 2014 and December 2021. Results: A total of 101 patients were analyzed, with a median age at diagnosis of 27.67 years (range 0–89), of which 52.47% were male. The most frequent RBD in our population was FVII deficiency. Regarding the diagnostic reason, the most frequent cause was a preoperative test and only 14.8% reported bleeding symptoms at the time of diagnosis. A genetic study was carried out in 63.36% of patients and the most frequent mutation type found was finding a missense mutation. Conclusions: The distribution of RBDs in our centre is similar to the one reported in the literature. The majority of RBDs were diagnosed from a preoperative test and this allowed preventive treatment prior to invasive procedures to avoid bleeding complications. 83% of patients did not have a pathological bleeding phenotype according to ISTH‐BAT |
| first_indexed | 2024-03-12T14:07:07Z |
| format | Article |
| id | doaj.art-dc23f968667b4037814c72ce01fefd05 |
| institution | Directory Open Access Journal |
| issn | 2688-6146 |
| language | English |
| last_indexed | 2024-03-12T14:07:07Z |
| publishDate | 2023-05-01 |
| publisher | Wiley |
| record_format | Article |
| series | eJHaem |
| spelling | doaj.art-dc23f968667b4037814c72ce01fefd052023-08-21T14:05:59ZengWileyeJHaem2688-61462023-05-014247648210.1002/jha2.664VHrare study: Prevalence, clinical features and management of severe rare bleeding disorders in a large cohortOlga Benítez Hidalgo0Maria Fernanda Martinez Garcia1Irene Corrrales Insa2Mariana Fernández‐Caballero3Lorena Ramírez Orihuela4Vicente Cortina Giner5Natàlia Comes Fernández6Juan Carlos Juarez Gimenez7Hematology Department Hospital Universitari Vall d'Hebron, Experimental Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus Barcelona SpainHematology Department Hospital Universitari Vall d'Hebron, Experimental Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus Barcelona SpainCongenital Coagulopaties Banc de Sang i Teixits Barcelona SpainLaboratory of Haematology, ICO‐Badalona, Germans Trias i Pujol University Hospital, Institut Josep Carreras Contra la Leucemia Universitat Autònoma de Barcelona Barcelona SpainCongenital Coagulopaties Banc de Sang i Teixits Barcelona SpainHematology Department Hemostasis Laboratory, Vall d´Hebron Hospital Barcelona SpainCongenital Coagulopaties Banc de Sang i Teixits Barcelona SpainPharmacy Department Hospital Universitari Vall d'Hebron Barcelona SpainAbstract Introduction: Rare bleeding disorders (RBD) constitute 5% of total hereditary bleeding disorders, although the number could be higher, due to the presence of undiagnosed asymptomatic patients. The objective of this study was to analyze the prevalence and characteristics of patients with severe RBDs in our area. Material and methods: We analyzed the patients with RBD followed at a tertiary‐level hospital between January 2014 and December 2021. Results: A total of 101 patients were analyzed, with a median age at diagnosis of 27.67 years (range 0–89), of which 52.47% were male. The most frequent RBD in our population was FVII deficiency. Regarding the diagnostic reason, the most frequent cause was a preoperative test and only 14.8% reported bleeding symptoms at the time of diagnosis. A genetic study was carried out in 63.36% of patients and the most frequent mutation type found was finding a missense mutation. Conclusions: The distribution of RBDs in our centre is similar to the one reported in the literature. The majority of RBDs were diagnosed from a preoperative test and this allowed preventive treatment prior to invasive procedures to avoid bleeding complications. 83% of patients did not have a pathological bleeding phenotype according to ISTH‐BAThttps://doi.org/10.1002/jha2.664bleeding phenotypediagnosismanagementrare bleeding disorders |
| spellingShingle | Olga Benítez Hidalgo Maria Fernanda Martinez Garcia Irene Corrrales Insa Mariana Fernández‐Caballero Lorena Ramírez Orihuela Vicente Cortina Giner Natàlia Comes Fernández Juan Carlos Juarez Gimenez VHrare study: Prevalence, clinical features and management of severe rare bleeding disorders in a large cohort eJHaem bleeding phenotype diagnosis management rare bleeding disorders |
| title | VHrare study: Prevalence, clinical features and management of severe rare bleeding disorders in a large cohort |
| title_full | VHrare study: Prevalence, clinical features and management of severe rare bleeding disorders in a large cohort |
| title_fullStr | VHrare study: Prevalence, clinical features and management of severe rare bleeding disorders in a large cohort |
| title_full_unstemmed | VHrare study: Prevalence, clinical features and management of severe rare bleeding disorders in a large cohort |
| title_short | VHrare study: Prevalence, clinical features and management of severe rare bleeding disorders in a large cohort |
| title_sort | vhrare study prevalence clinical features and management of severe rare bleeding disorders in a large cohort |
| topic | bleeding phenotype diagnosis management rare bleeding disorders |
| url | https://doi.org/10.1002/jha2.664 |
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