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Rare bleeding disorders: Real-world data from a Spanish tertiary hospital
Daniel Martínez-Carballeira1, Alberto Caro1, Ángel Bernardo1
1Department of Hematology, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain; Platelet Research Lab, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.
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.
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