Epidemiology of Severe Rare Congenital Bleeding Disorders at a Bleeding Disorders Reference Center in Spain

M.F. Martinez Garcia¹, O. Benitez Hidalgo¹, I. Corrales Insa², S. Franco Palacios³, M. Fernandez Caballero⁴, M. Suito Alcantara⁵, V. Cortina Giner⁶, M. Gironella Mesa⁷, F. Bosch Albareda⁸

¹Hemophilia Unit, Vall d´Hebron University Hospital, Barcelona, Spain, ²Banc de Sang i Teixits, Barcelona, Spain, ³Experimental Hematology, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, ⁴Hematology Laboratory, ICO-Badalona, Hospital Germans Trias i Pujol, Josep Carreras Leukaemia Research Institute, Autonomous University of Barcelona, Badalona, Spain, ⁵Hemostasis Unit, Vall d´Hebron University Hospital, Barcelona, Spain, ⁶Hemostasis Laboratory, Hematology Department, Vall d´Hebron Hospital, Barcelona, Spain, ⁷Hematology Department, Vall d'Hebron Hospital, Barcelona, Spain, ⁸Head of Hematology Department, Vall d´Hebron Hospital, Barcelona, Spain

Abstract Number: PB0720

Meeting: ISTH 2021 Congress

Theme: Hemophilia and Rare Bleeding Disorders » Rare Bleeding Disorders

Background: Rare bleeding disorders (RBD) constitute 5% of the total congenital bleeding disorders, although the number could be higher, due to the presence of undiagnosed asymptomatic patients.

Aims: The objective of this study was to analyze the prevalence and characteristics of patients with severe RBD, followed in our center.

Methods: We collected data of the patients with RBD with factor levels <20% or fibrinogen < 1 g/dL visited in our center between January 2014 and December 2019.

Results: A total of 92 patients were analyzed. The median age was 24.4 years (range 0-89), and 54% were male patients. The most frequent RBD in our population was the FVII deficiency (38%), followed by the FXI deficiency and fibrinogen deficit with 25% and 15% respectively. Regarding the diagnostic reason, the most frequent cause was a preoperative analysis (46%) and only 19.5% reported bleeding symptoms at the diagnosis and 25% presented at least one episode of spontaneous bleeding during the follow-up. The 63% had received replacement treatment mostly as prophylaxis prior to invasive procedures. Twenty-two percent of our population had a pathological ISTH-BAT score, and of these, 70% were female patients. A genetic study was carried out in 66% of patients finding a Missense mutation as the most frequent mutation in our series.

Conclusions: The distribution of RBD in our center is similar than reported in the literature. The majority of RBD have been diagnosed from a preoperative analysis and this has allowed a preparation prior to surgical interventions thus avoiding bleeding complications. Despite having levels classified as severe, most patients (83%), do not have a pathological bleeding phenotype according to the ISTH-BAT scale, and it is striking that most of the patients who have a pathological score are women (70%).

To cite this abstract in AMA style:

Martinez Garcia MF, Benitez Hidalgo O, Corrales Insa I, Franco Palacios S, Fernandez Caballero M, Suito Alcantara M, Cortina Giner V, Gironella Mesa M, Bosch Albareda F. Epidemiology of Severe Rare Congenital Bleeding Disorders at a Bleeding Disorders Reference Center in Spain [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/epidemiology-of-severe-rare-congenital-bleeding-disorders-at-a-bleeding-disorders-reference-center-in-spain/. Accessed November 29, 2021.

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