Background: Rare bleeding disorders (RBDs) are a heterogeneous group of coagulation factor deficiencies, mostly inherited autosomal recessively pattern. This represent approximately 3.5 % of all inherited factor deficiencies. Therapeutic options depend on the deficiency and range from plasma-derived (eg, fresh frozen plasma, prothrombin complex concentrates, factor X concentrate) to highly purified and recombinant single factor concentrates.

Aims: To describe the patients with RBD diagnosis, clinical manifestation and severity of bleeding in our centre since 2010.

Methods: Retrospective observational study registered in the last 10 years, since 2010. For this work, retrieved data included: age at diagnosis, type of coagulation factor deficiency, bleeding type, treatment strategies and complications.

Results: The median age at diagnosis was 5 years (range, 6 months to 12 y). 3 females and 2 males. Family background was found in 3 patients. The bleeding symptoms at diagnosis were: post-traumatic bleeding in 2 pts (mouth and fracture arm) menorrhagia, convulsions, and pre-surgical study. The diagnostic were: factor VII deficiency in 2 pts, factor V deficit in 1 patient, factor XIII deficit in one and combined factor V-VIII deficit in 1. The factor VII deficiencies were treated with rFVIIa. In the case of Factor V deficit, the factor dosage was 3% and the patients had 2 haemarthrosis episodes and mucocutaneous bleeding . The episodes were treated with fresh frozen plasma, after the last treatment the child present sudden development of dyspnea, severe hypoxemia, and hypotension with Chest Rx bilateral infiltrates. Transfusion related acute lung injury was diagnosed and required oxygen supplementation and corticosteroids.

Conclusions: RBD are rare, but we must keep their diagnosis in mind, specific factor assay are necessary to identify the deficiencies. Sometimes, the treatment complications can be severe, particularly in case that fresh frozen plasma or cryoprecipitate. When available, specific purified plasma-derived or recombinant factor concentrates are the recommendations.

« Back to ISTH 2020 Congress

ISTH Congress Abstracts - https://abstracts.isth.org/abstract/single-centre-experience-of-rare-bleeding-disorders/