Berntorp, Erik; Fischer, Kathelijn; Hart, Daniel P.; Mancuso, Maria Elisa; Stephensen, David; Shapiro, Amy D.; Blanchette, Victor
(2021) Nature Reviews Disease Primers, volume 7, issue 1, pp. 1 - 19
(Article)
Abstract
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
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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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Keywords: General Medicine
ISSN: 2056-676X
Publisher: Nature Publishing Group
Note: Funding Information: E.B. has received grants and/or research support from Bayer, CSL Behring, Shire and Sobi/Bioverativ and honoraria and/or consultation fees from Bayer, Octapharma and Shire/Takeda. The Van Creveldkliniek has received speaker’s fees from Bayer, Baxter/Shire, Sobi/Biogen, CSL Behring and Novo Nordisk; has performed consultancy for Bayer, Biogen, CSL Behring, Freeline, Novo Nordisk, Roche and Sobi; and has received research support from Bayer, Baxter/Shire, Novo Nordisk, Pfizer and Biogen for work done by K.F. Queen Mary University London has received research grants from Bayer, Octapharma and Takeda for work performed by D.P.H. He or his institution have received speaker or consultancy honoraria from Bayer, BioMarin, Biotest, Grifols, Novo Nordisk, Octapharma, Pfizer, Roche, Sanofi, Spark Therapeutics, Sobi, Takeda and UniQure. M.E.M. has acted as paid consultant, adviser or speaker for Bayer Healthcare, BioMarin, Catalyst, CSL Behring, Grifols, Kedrion, LFB, Novo Nordisk, Octapharma, Pfizer, Roche, Sobi, Spark Therapeutics and Takeda. D.S. is Chair of EAHAD Physiotherapy Committee, received research grant funding from the National Institute for Health Resarch (NIHR), Novo Nordisk, Pfizer, Roche, Sobi and acted as paid adviser or speaker for Bayer, Pfizer, Sobi, Roche and Takeda. V.B. is Chair of the International Prophylaxis Study Group (the IPSG), which is funded by grants from Bayer Healthcare, Bioverativ (now Sanofi/ Genzyme), Novo Nordisk, Pfizer, Shire (now Takeda) and Spark Therapeutics to the Hospital for Sick Children Foundation, Toronto, Canada. He has received fees for participation in education events and advisory boards sponsored by Amgen, Bayer Healthcare, Novo Nordisk, Pfizer, Roche and Shire (now Takeda), and for participation in data safety monitoring boards for Octapharma and Takeda. He is recipient of investigator-initiated grants from Bayer Healthcare, Bioverativ (now Sanofi/Genzyme) and Shire (now Takeda). A.D.S. has served as consultant for Genentech, Roche, Novo Nordisk, BioMarin, Bioveritiv, Sanofi, ProMetic Bio Sciences, Kedrion, Sigilon and Takeda. She has received research funding from the above plus Agios, OPKO, Global Bio Therapeutics, Sangamo, Sigilon, Octapharma and Novartis. Publisher Copyright: © 2021, Springer Nature Limited.
(Peer reviewed)