VHrare study: Prevalence, clinical features and management of severe rare bleeding disorders in a large cohort

Abstract

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