Shannon van Hoorn

51 PROMs in autosomal inherited bleeding disorders: A systematic literature review 2 DISCUSSION The aim of this systematic review was to summarize the available literature assessing PROMs and PRO’s in patients with autosomal inherited bleeding disorders. Integrating the patients’ perspective has increasingly gained attention in both clinical research as well as in clinical practice, especially since objective measures such as laboratory values or bleeding assessment tools do not always reflect the impact of an inherited bleeding disorder and its treatment on patient's daily life. To the best of our knowledge, this is the first systematic review assessing PROs in autosomal inherited bleeding disorders. This systematic review shows that overall, patients with autosomal inherited bleeding disorders have lower HRQoL compared to the general population. This trend is especially visible in the following domains: vitality, physical and social functioning, pain and health in general. The relationship between bleeding scores and HRQoL was unclear, with some studies finding positive and others negative associations 23-25,40,42. This may be related to the use of different assessment tools. However, it should be noted that bleeding scores reflect bleeding symptoms that have occurred earlier during a patient's lifetime. Therefore, bleeding assessment tools are less able to convey changes in bleeding phenotype over time, for example after a specific intervention or treatment 23,43. Most included studies focused on patients with VWD, the most common inherited bleeding disorder, and on women with bleeding disorders. Women generally scored lower on several HRQoL domains compared to men, due to their specific hemostatic challenges. Heavy menstrual bleeding is the most common symptom that women with bleeding disorders experience 44. Prevalence rates range from 32% to 100% in a large review on women with VWD 44. Heavy menstrual bleeding impacts daily activities 34-36,39,41, social relations 31,41, sport activities 22,32,33 and the ability to work or go to school 29,35,36,41. Women with inherited bleeding disorders without heavy menstrual bleeding report better HRQoL 30,34,39. Three studies suggested that lower HRQoL in women may be specifically associated with iron deficiency anemia secondary to heavy menstrual bleeding 39,40,45. Treatment for heavy menstrual bleeding such as oral contraceptive therapy or endometrial ablation was found to significantly improve quality of life in girls and women with autosomal inherited bleeding disorders 29,30. The increased level of pain in patients with autosomal inherited bleeding disorders is likely to be related to dysmenorrhea and joint bleeds. The latter is, however, rare in autosomal bleeding disorders and only occurs in patients

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