| Autor: |
Berntorp E; Department of Translational Medicine, Lund University, Malmö, Sweden. erik.berntorp@med.lu.se.; Skane University Hospital, Malmö, Sweden. erik.berntorp@med.lu.se., Fischer K; Van Creveldkliniek, University Medical Center Utrecht, Utrecht, The Netherlands., Hart DP; The Royal London Hospital Haemophilia Centre, Barts Health NHS Trust, London, UK.; Centre for Immunobiology, Blizard Institute, Barts and The London School of Medicine and Dentistry, QMUL, London, UK., Mancuso ME; Center for Thrombosis and Hemorrhagic Diseases, IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Stephensen D; The Royal London Hospital Haemophilia Centre, Barts Health NHS Trust, London, UK.; Kent Haemophilia & Thrombosis Centre, Canterbury, UK., Shapiro AD; Indiana Hemophilia and Thrombosis Center, Inc., Indianapolis, IN, USA., Blanchette V; Department of Paediatrics, University of Toronto, Toronto, Canada.; Division of Haematology/Oncology, Research Institute, Hospital for Sick Children, Toronto, Canada. |
| Abstrakt: |
Haemophilia A and B are rare congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. The severity of the disease depends on the reduction of levels of FVIII or FIX, which are determined by the type of the causative mutation in the genes encoding the factors (F8 and F9, respectively). The hallmark clinical characteristic, especially in untreated severe forms, is bleeding (spontaneous or after trauma) into major joints such as ankles, knees and elbows, which can result in the development of arthropathy. Intracranial bleeds and bleeds into internal organs may be life-threatening. The median life expectancy was ~30 years until the 1960s, but improved understanding of the disorder and development of efficacious therapy based on prophylactic replacement of the missing factor has caused a paradigm shift, and today individuals with haemophilia can look forward to a virtually normal life expectancy and quality of life. Nevertheless, the potential development of inhibitory antibodies to infused factor is still a major hurdle to overcome in a substantial proportion of patients. Finally, gene therapy for both types of haemophilia has progressed remarkably and could soon become a reality. |
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