title: Registry-based outcome assessment in haemophilia: a scoping study to explore the available evidence.
abstract: Haemophilia is a congenital disorder with bleeding episodes as its primary symptom. These episodes can result in negative outcomes including joint damage, loss of active days due to hospitalization and reduced quality of life. Effective treatment, however, can improve the outcome. Registries have been used as a valuable source of information regarding the monitoring of treatment and outcome. The two main aims of this exploratory study were to establish which haemophilia registries publish peer-reviewed outcome assessment research and then to extract, classify and report the treatment outcomes and their extent of use in the retrieved registries. Using relevant keywords, we searched PubMed and Web of Science databases for publications during the period 1990-2015. Retrieved references were screened in a stepwise process. Eligible papers were original full articles on haemophilia outcomes that used data from a computerized patient database. Descriptive results were summarized. Of 2352 references reviewed, 25 full texts were eligible for inclusion in the study. These papers were published by 11 registries ranging from local to international in coverage. It is still relatively rare for registries to produce peer-reviewed publications about outcomes, and most that currently do produce such papers are located in Europe and North America. More information is available on traditional outcomes such as comorbidities and arthropathy than on health-related quality of life or the social and developmental impact of haemophilia on patients. Inhibitors, HIV and viral hepatitis are amongst the most commonly reported comorbidities. Research has focused more on factor consumption and less on hospitalization or time lost at school or work due to haemophilia. Haemophilia registries, especially those at the national level, are valuable resources for the delivery of effective health care to patients. Validated outcome measurement instruments are essential for the production of reliable and accurate evidence. Finally, such evidence should be communicated to physicians, patients, the public and health policymakers.
authors.affiliation: Department of Translational Medicine, Centre for Thrombosis and Haemostasis, Lund University and Skåne University Hospital, Malmö, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Osooli
authors.affiliation: Department of Translational Medicine, Centre for Thrombosis and Haemostasis, Lund University and Skåne University Hospital, Malmö, Sweden.
authors.forename: E
authors.initials: E
authors.lastname: Berntorp
mesh_terms: D015897:Comorbidity; D017281:Cost of Illness; D019317:Evidence-Based Medicine; D006467:Hemophilia A / Q000150:complications / Q000401:mortality / Q000628:therapy*; D002836:Hemophilia B / Q000150:complications / Q000401:mortality / Q000628:therapy*; D006801:Humans; D007592:Joint Diseases / Q000209:etiology; D010380:Peer Review; D011788:Quality of Life; D012042:Registries / Q000592:standards*; D016896:Treatment Outcome
keywords: factor IX; factor VIII; haemophilia; registries; treatment outcome