title: Joint disease, the hallmark of haemophilia: what issues and challenges remain despite the development of effective therapies?
abstract: Although effective therapies for haemophilia have been available for decades, the prevention and treatment of joint disease remain major clinical concerns for all haemophilia patients. Early identification of joint disease is vital to initiate or modify treatment, and prevent arthropathy. However, there remains a need for more sensitive and accurate methods, which may also detect improvement in patient outcome with new therapies or different prophylaxis regimens. These topics were explored at the Ninth Zürich Haemophilia Forum. A summary of our shared views on the limitations of current assessment methods, and the potential advantages of more recently developed tools, is provided. Ultrasonography enables more frequent routine monitoring and the early detection of joint disease. In addition, serological markers may provide suitable biomarkers of early arthropathy. To prevent arthropathy, in our opinion, prophylaxis is key to prevent joint bleeds and subsequent initiation of the 'vicious circle of joint disease'. However, issues remain, including when prophylaxis should be started, stopped, and if it is efficacious for inhibitor patients. Once joint bleeding has occurred, enhanced on-demand treatment should be considered. For more advanced stages of joint disease, the issues regarding the treatment options available are explored. Radiosynovectomy should be performed to treat chronic synovitis, and may prevent the need for elective orthopaedic surgery (EOS). Ultimately, however, EOS can be considered once all other treatment options have been explored. While, bypassing agents have facilitated the use of EOS in inhibitor patients, a multidisciplinary approach and careful surveillance is required for good patient outcome.
authors.affiliation: Hemophilia Care Center, Bicêtre AP-HP Hospital and Faculté de Médecine Paris XI, Paris, France. Electronic address: thierry.lambert@bct.aphp.fr.
authors.forename: Thierry
authors.initials: T
authors.lastname: Lambert
authors.affiliation: Klinikum Bremen-Mitte, Professor Hess Children's Hospital, Bremen, Germany.
authors.forename: Günter
authors.initials: G
authors.lastname: Auerswald
authors.affiliation: Northern Ireland Haemophilia Comprehensive Care Centre, Belfast, Northern Ireland.
authors.forename: Gary
authors.initials: G
authors.lastname: Benson
authors.affiliation: Department of Medicine, Malmö University Hospital, University of Lund, Malmö, Sweden.
authors.forename: Ulla
authors.initials: U
authors.lastname: Hedner
authors.affiliation: Hospital Universitario La Paz, Unidad de Coagulopatías, Servicio de Hematología, Universidad Autonoma de Madrid, Madrid, Spain.
authors.forename: Victor
authors.initials: V
authors.lastname: Jiménez-Yuste
authors.affiliation: Lund University, Department of Paediatrics and Malmö Centre for Thrombosis and Haemostasis, Skåne University Hospital, Malmö/Lund, Sweden.
authors.forename: Rolf
authors.initials: R
authors.lastname: Ljung
authors.affiliation: Agency for Hemophilia-Reference Center for Inherited Bleeding Disorders of Tuscany, Department of Emergency and Reception, Azienda Ospedaliero Universitaria Careggi, Florence, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Morfini
authors.affiliation: Department of Psychobiology and Health, Faculty of Psychology, Universidad Autónoma de Madrid, Madrid, Spain.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Remor
authors.affiliation: Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Cà Granda Foundation, Maggiore Hospital, Milan, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Santagostino
authors.affiliation: National Haemophilia and Thrombophilia Centre, Division of Haematology, Department of Internal Medicine, University Hospital Centre Rebro, Zagreb, Croatia.
authors.forename: Silva
authors.initials: S
authors.lastname: Zupančić Šalek
mesh_terms: D006467:Hemophilia A / Q000150:complications* / Q000000981:diagnostic imaging / Q000628:therapy; D006801:Humans; D007592:Joint Diseases / Q000097:blood* / Q000000981:diagnostic imaging; D014463:Ultrasonography
keywords: Arthropathy; Haemophilia; Inhibitors; Joint score; On-demand treatment; Prophylaxis