Rare bleeding disorders: Real-world data from a Spanish tertiary hospital.
Blood Cells Mol Dis
; 106: 102837, 2024 May.
Article
em En
| MEDLINE
| ID: mdl-38387429
ABSTRACT
INTRODUCTION:
Due to their low prevalence, rare bleeding disorders (RBDs) remain poorly characterized.AIM:
To gain insight of RBDs through our clinical practice.METHODS:
Retrospective study of the medical records of RBD patients followed up at the Central University Hospital of Asturias between January 2019 and December 2022.RESULTS:
A total of 149 patients were included. Factor (F) VII (44 %) and FXI (40 %) deficiencies were the most common diagnosed coagulopathies. Most of the patients were asymptomatic (60.4 %) and the most frequent type of bleeding were mucocutaneous and after surgery. All replacement treatments were administered on demand and no patient was on a prophylaxis regimen. Currently available products were safe; allergic reactions after administration of plasma were the most frequent complication. Genetic analysis, carried out on 55 patients (37 %), showed that the most frequent mutations in RBDs are of missense type (71.9 %). We identified 11 different novel genetic alterations in affected genes. The c.802C > T (p.Arg268Cys) variant, previously described, was identified in 71 % (15 of 21) of the patients with FXI deficiency genotyped and none were related (probable founder effect).CONCLUSION:
Our study on an unusual large single center cohort of RBD patients portrays location-dependent distinct genetic drives and clinical practice particularities.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos da Coagulação Sanguínea
/
Deficiência do Fator XI
Limite:
Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article