125 PROMIS in VWD, IPFDs and RBDs 5 INTRODUCTION Inherited bleeding disorders are caused by abnormalities in the hemostatic process and consist of a heterogeneous group of coagulation disorders. Hemophilia A and B and von Willebrand disease (VWD) represent approximately 85 percent of all inherited bleeding disorders, while inherited platelet function disorders (IPFDs) and rare bleeding disorders (RBDs), including disorders of fibrinolysis, are significantly less prevalent 1-5. Patients with these inherited bleeding disorders exhibit a wide variety of symptoms and their clinical presentation often overlap 6-10. Disease severity ranges from asymptomatic or minor bleeding to severe and life-threatening bleeding. In general, patients with mild inherited bleeding disorders frequently present with mucocutaneous bleeding, including easy bruising, epistaxis, and heavy menstrual bleeding 11. In addition, patients with VWD, IPFDs and rare coagulation deficiencies may present with persistent bleeding after childbirth, trauma, and/or surgery 12,13. Patients with fibrinolytic disorders typically present with delayed bleeding following trauma or surgery 14. Previous research has shown that the bleeding tendency may have a significant impact on a patients’ quality of life 12,15. Repeated bleeding episodes hamper physical functioning and the ability to perform daily and social activities 12. Insight into a patients’ health-related quality of life is therefore essential in the management and treatment of all inherited bleeding disorders 16. Patient-reported outcomes measures (PROMs) are self-reported questionnaires used to gauge patients’ perspectives on their health, well-being as well as the impact of disease and treatment on their lives 17. PROMs measure one or multiple patient-reported outcomes (PROs) and are often classified as generic (i.e. applicable for everyone) or disease-specific (i.e. applicable for a certain disease, condition, or treatment) 18. When used in clinical care, PROMs may improve patient-healthcare professional communication, facilitate shared decision making, and increase healthcare professionals’ awareness of patients’ problems and concerns 19,20. In the Netherlands, several initiatives have validated and advocated the use of patient-reported outcomes measurement information system (PROMIS) as a tool to measure PROs in patients with inherited bleeding disorders 17,21-24. PROMIS provides a set of generic, standardized item banks that can be used to evaluate and monitor a broad range of health domains (physical, mental, and social health) in both children and adults 17,22. PROMIS item banks are based on Item Response Theory (IRT) which enables the application of Computer
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