Rare bleeding disorders: Real-world data from a Spanish tertiary hospital

Abstract

IntroductionDue to their low prevalence, rare bleeding disorders (RBDs) remain poorly characterized. AimTo gain insight of RBDs through our clinical practice. MethodsRetrospective study of the medical records of RBD patients followed up at the Central University Hospital of Asturias between January 2019 and December 2022. ResultsA 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). ConclusionOur study on an unusual large single center cohort of RBD patients portrays location-dependent distinct genetic drives and clinical practice particularities.