Speaker Abstracts

Abstract

Though the treatment options and modalities are constantly improving in the field of haemophilia, we are still not able to entirely prevent joint deterioration and related issues in all persons with haemophilia (PWH). This burden is even more seen in those who suffer from inhibitors. Radiosynovectomy or radiosynoviorthesis (RSO) may not only postpone the need for arthroplasty, but can also significantly decrease pain, recurrent articular bleeding, and thus may improve the quality of life in PWH.Radiosynovectomy is, however, not only "the procedure" done by orthopaedic surgeon. It needs the concert of all multidisciplinary team members taking care of PWH. The respective roles of patient, physiotherapist, nurse, orthopaedic surgeon and haematologist will be discussed during this educational session based on the real case of a patient with severe haemophilia A with inhibitors, who will be also present.Attendees of this session will be encouraged to actively participate in the discussion through answering the questions asked during the presentation (audience interaction will be facilitated through the voting pads available during the session). The development of inhibitory alloantibodies to factor VIII or factor IX is the most serious and challenging complication in haemophilia patients. Previously, on-demand treatment of bleeding episodes in haemophilia persons with inhibitors has shown to be less effective than in patients without inhibitors leading to increased morbidity including more joint disease, negative impact on health-related quality of life (QoL) and increased rate of haemophilia -related deaths. (2) showed a considerable variable responses of prophylaxis outcome as 38% of the persons with more than 50% reduction in bleeding events had no bleeds during the prophylaxis period whereas 38% had less than 50% reduction in bleeding event, implying that there is a rationale for individualized care. Global coagulation assays as thrombin generation assay (TGA) and thromboelastometry might be helpful to optimize prophylactic treatment with bypassing agents to find the optimal product, dose and frequency for each person.Promising prophylactic outcome in inhibitor patients with haemophilia A have also recently been reported from the use of newer treatment principles like emicizumab where prophylaxis resulted in a bleeding rate that was significantly lower (79%) than the rate with previous bypassing-agent prophylaxis (P < .001).Based on the present knowledge prophylaxis should be considered Multicenter projects, such as our project "Functional and molecular characterization of patients with IPDs" under the scientific coverage of the Spanish Society of Thrombosis and Hemostasis, helps these limitations. 5,8Until recently, the molecular diagnosis of IPDs was addressed by sequencing of candidate genes "identified" by the clinical and biological phenotype of the patients. This approach led to molecular diagnosis in less than 50% of patients. Indeed, the irruption of HTS has revolutionized the field of IPDs, leading to i...