Rationale for individualizing haemophilia care.
Owing to the heterogeneity in the clinical phenotype of haemophilia A and B, it is now recognized that disease severity (based on factor VIII/IX activity) may no longer be the most appropriate guide for treatment and that a 'one-size-fits-all' approach is unlikely to achieve optimal therapy. Based on the present literature and consensus views of a group of experts in the field, this article highlights key gaps in the understanding of the diverse relationships between bleeding phenotype and factors such as joint health, genetic susceptibility, laboratory parameters, quality of life and management of pain. Early prophylaxis is a potential 'gold standard' therapy and issues surrounding inhibitor development, variations in its clinical use and long-term outcomes are discussed. Comprehensive treatment should be individualized for all patients (including those with mild or moderate haemophilia and carriers). Wherever possible all patients should be given prophylaxis. However, adult patients with a milder haemophilia phenotype may be candidates for ceasing prophylaxis and switching to on-demand treatment. Regardless, all treatment (on-demand and prophylaxis) should be tailored towards both the patient's personal needs and their clinical profile. In addition, as the associations between risk factors (psychosocial, condition-related and treatment-related) and clinical features are unique to each patient, an individualized approach is required to enable patients to alter their behaviour in response to them. The practical methodologies needed to reach this goal of individualized haemophilia care, and the health economic implications of this strategy, are ongoing topics for discussion.
aHaemostasis Research Unit, Centre for Haemophilia and Thrombosis, Guy's and St Thomas' NHS Foundation Trust and King's College London, School of Medicine, London, UK bKlinikum Bremen-Mitte, Professor Hess Children's Hospital, Bremen, Germany cNorthern Ireland Haemophilia Comprehensive Care Centre, Belfast, UK dClinic of Haematology, Clinical Centre of Serbia, Medical Faculty, University of Belgrade, Belgrade, Serbia eGartenstr 14, Zürich, Switzerland fHemophilia Care Center, Bicêtre AP-HP Hospital and Faculté de Médecine Paris XI, Paris, France gAgency for Hemophilia - Reference Center for Inherited Bleeding Disorders of Tuscany, Department of Emergency and Reception, Azienda Ospedaliero Universitaria Careggi, Florence, Italy hDepartment of Psychobiology and Health, Faculty of Psychology, Universidad Autónoma de Madrid, Madrid, Spain iInstitute of Hematology and Blood Transfusion, Prague, Czech Republic jAngelo Bianchi Bonomi Hemophilia Center, IRCCS Cà Granda Foundation, Maggiore Hospital Policlinico, Milan, Italy kNational Haemophilia and Thrombophilia Centre, Division of Haematology, Department of Internal Medicine, University Hospital Centre Rebro, Zagreb, Croatia lLund University, Department of Paediatrics and Malmö Centre for Thrombosis and Haemostasis, Skåne University Hospital, Malmö, Sweden.
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D000328:Adult; D001779:Blood Coagulation Factors / Q000627:therapeutic use; D002648:Child; D003029:Coagulants / Q000378:metabolism / Q000627:therapeutic use*; D019468:Disease Management; D005164:Factor IX / Q000378:metabolism / Q000627:therapeutic use; D005169:Factor VIII / Q000378:metabolism / Q000627:therapeutic use; D005260:Female; D006467:Hemophilia A / Q000097:blood / Q000188:drug therapy* / Q000473:pathology; D002836:Hemophilia B / Q000097:blood / Q000188:drug therapy* / Q000473:pathology; D006470:Hemorrhage / Q000097:blood / Q000473:pathology / Q000517:prevention & control*; D006801:Humans; D008297:Male; D057285:Precision Medicine / Q000379:methods*; D011788:Quality of Life; D012307:Risk Factors; D012720:Severity of Illness Index; D016896:Treatment Outcome
D001779:Blood Coagulation Factors; D003029:Coagulants; C025667:prothrombin complex concentrates; D005169:Factor VIII; D005164:Factor IX