The past and future of haemophilia: diagnosis, treatments, and its complications

@article{Peyvandi2016ThePA,
  title={The past and future of haemophilia: diagnosis, treatments, and its complications},
  author={F. Peyvandi and I. Garagiola and G. Young},
  journal={The Lancet},
  year={2016},
  volume={388},
  pages={187-197}
}
Haemophilia A and B are hereditary haemorrhagic disorders characterised by deficiency or dysfunction of coagulation protein factors VIII and IX, respectively. Recurrent joint and muscle bleeds lead to severe and progressive musculoskeletal damage. Existing treatment relies on replacement therapy with clotting factors, either at the time of bleeding (ie, on demand) or as part of a prophylactic schedule. The major complication of such therapy is the development of neutralising antibodies (ie… Expand
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References

SHOWING 1-10 OF 139 REFERENCES
Perinatal management of newborns with haemophilia
The dawn of potentially curative strategies for haemophilia, advances in gene diagnosis and the availability of safer clotting factor concentrates for treatment and prophylaxis make it imperativeExpand
European Study on Orthopaedic Status of haemophilia patients with inhibitors
TLDR
The burden of orthopaedic complications and the impact on QoL are more severe in haemophilia patients who have developed inhibitors than in those without inhibitors. Expand
Randomized comparison of prophylaxis and on-demand regimens with FEIBA NF in the treatment of haemophilia A and B with inhibitors
TLDR
It is demonstrated that FEIBA prophylaxis significantly reduces all types of bleeding compared with on‐demand treatment, and the safety of prophyllaxis is comparable to that of on‐ demand treatment. Expand
Hemophilia a and hemophilia B: different types of diseases?
TLDR
There is a biological plausibility behind the different clinical expression of these two forms of congenital hemophilia, and the distinction of various bleeding phenotypes inhemophilia has considerable therapeutic implications; therefore, further research in this field is required to optimize treatment regimens. Expand
Rituximab for treatment of inhibitors in haemophilia A. A Phase II study.
TLDR
Rituximab is useful in lowering inhibitor levels in patients, but its effect as a solo treatment strategy is modest and future studies are indicated to determine the role of ritUXimab as an adjunctive therapy in immune tolerisation strategies. Expand
Inhibitors in congenital coagulation disorders
  • N. Key
  • Medicine
  • British journal of haematology
  • 2004
TLDR
The purpose of this review is to summarize current understanding of the epidemiology, immunobiology, laboratory evaluation and management of inhibitors arising in patients with congenital coagulation disorders. Expand
Parallel use of by‐passing agents in haemophilia with inhibitors: a critical review
TLDR
Although efficacy of parallel treatment was reported excellent in most cases, thromboembolism is rare in haemophilia and parallel treatment with activated prothrombin complex concentrate and activated recombinant human factor VII appears to increase the risk of thrombosis in patients. Expand
FEIBA versus NovoSeven in hemophilia patients with inhibitors.
TLDR
The main characteristics of the bypassing agents FEIBA and NovoSeven are summarized, briefly discussing available literature data, and in particular, focusing on comparative studies. Expand
Anti-inhibitor coagulant complex prophylaxis in hemophilia with inhibitors.
TLDR
AICC prophylaxis at the dosage evaluated significantly and safely decreased the frequency of joint and other bleeding events in patients with severe hemophilia A and factor VIII inhibitors. Expand
The diagnosis and management of congenital hemophilia.
  • M. Carcao
  • Medicine
  • Seminars in thrombosis and hemostasis
  • 2012
TLDR
This review will summarize the very complex and multifaceted aspects of diagnosing and managing persons with hemophilia. Expand
...
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2
3
4
5
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