Shannon van Hoorn

13 1 General introduction a severe bleeding tendency, patients with a milder bleeding phenotype may experience excessive bleeding after some but not all hemostatic challenges 52,53. Spontaneous life-threatening bleeding symptoms such as intracranial hemorrhage or gastrointestinal bleeding are less common in patients with inherited platelet function disorders 49. Rare bleeding disorders Rare bleeding disorders are comprised of deficiencies of fibrinogen, prothrombin (FII), FV, combined FV and FVIII, FVII, FX, FXI, FXIII and fibrinolysis disorders (i.e. alpha2-antiplasmin deficiency, plasminogen activator inhibitor 1 deficiency and hyperfibrinolysis) 54-56. Most rare bleeding disorders have an autosomal inheritance pattern 54,55. Patients with rare bleeding disorders have varying clinical presentations. Similar to patients with von Willebrand disease and inherited platelet function disorders, patients with a rare bleeding disorder most commonly experience mucocutaneous bleeding symptoms. In contrast to patients with von Willebrand disease and inherited platelet function disorders who experience persistent bleeding after hemostatic challenges, patients with a fibrinolytic disorder typically experience delayed bleeding after hemostatic challenges 57. Spontaneous life-threatening or major bleeding only occur sporadic in patients with severe deficiencies 56. Research has historically focused on hemophilia Most studies in inherited bleeding disorders have historically focused on hemophilia A and B 57. This pattern is also observed with regard to research on the implementation of VBHC in inherited bleeding disorders. Previous research has identified which health outcomes are important for patients with hemophilia and investigated potential relevant and suitable PROMs to measure these health outcomes 37,58,59. Comparable studies have not yet been performed for patients with von Willebrand disease, inherited platelet function disorder or rare bleeding disorders. In addition, no attempt has yet been made to implement these PROMs in clinical routine care, and to evaluate if the routine collection of outcomes improves shared decision making and facilitates continuous learning and quality improvement in this patient population.

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