Sistema de Salut de Catalunya
Institut Català de la Salut
[Benítez Hidalgo O, Martinez Garcia MF] Servei d’Hematologia, Hospital Universitari Vall d’Hebron, Barcelona, Spain. Experimental Hematology, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Corrrales Insa I, Ramírez Orihuela L, Comes Fernández N] Congenital Coagulopaties, Banc de Sang i Teixits, Barcelona, Spain. Grup de Recerca Medicina Transfusional, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Fernández-Caballero M] Laboratory of Haematology, ICO-Badalona, Germans Trias i Pujol University Hospital, Institut Josep Carreras Contra la Leucemia, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Cortina Giner V] Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Juarez Gimenez JC] Servei de Farmàcia, Vall d’Hebron Hospital Universitari, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
2023-05-25T07:33:40Z
2023-05-25T07:33:40Z
2023-05
Fenotip hemorràgic; Diagnòstic; Trastorns hemorràgics rars
Fenotipo hemorrágico; Diagnóstico; Trastornos hemorrágicos raros
Bleeding phenotype; Diagnosis; Rare bleeding disorders
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
Article
Published version
English
Malalties rares; Malalties hemorràgiques - Tractament; Malalties hemorràgiques - Diagnòstic; DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Hemorrhagic Disorders; Other subheadings::Other subheadings::/diagnosis; DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases; HEALTH CARE::Health Services Administration::Patient Care Management::Disease Management; ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::trastornos hemorrágicos; Otros calificadores::Otros calificadores::/diagnóstico; ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras; ATENCIÓN DE SALUD::administración de los servicios de salud::gestión de la atención al paciente::tratamiento de las enfermedades
Wiley
EJHaem;4(2)
https://doi.org/10.1002/jha2.664
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Articles científics - HVH [3440]
Articles científics - VHIR [1665]
