This guest blog has been written by Dr Alfonso Iorio and Nikki Jahnke from the Cochrane Cystic Fibrosis and Genetic Disorders Group.

Today, April 17th 2013, is World Hemophilia Day – an event which aims to increase awareness of hemophilia and other inherited bleeding disorders. This year’s focus is to celebrate 50 years of work to close the gap in care and to achieve treatment for all people (men and women) with hemophilia and other inherited bleeding disorders, regardless of where they might live.

Bleeding disorders such as hemophilia are genetic and while relatively rare, these diseases affect over 1 million people worldwide. In people with bleeding disorders, the clotting process does not work properly and as a result, these people can bleed for longer than normal; uncontrolled internal bleeding can result from a seemingly minor injury. Some people may experience spontaneous bleeding into joints or muscles causing severe pain and disability; bleeding into major organs, such as the brain, can cause death.

For most of the diseases, there are treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes. options available, but these are costly and so not easily available to everyone. An article from 2007¹ estimated the annual cost of treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes. to prevent bleeding in the USA to be at least $300 000 per person, and even higher for those patients who develop antibodies to the treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes... It is a stark reality that 75% of people with bleeding disorders receive inadequate treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes. or no treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes. at all.

So what is preventing the provision of effective treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes. to people with bleeding disorders?

Firstly, there is a lack of awareness of bleeding disorders. Screening and diagnosis need to be improved. In many countries, current practice is to screen babies for hemophilia in families with a history of the disease. However, around a third of babies eventually diagnosed with hemophilia after they show signs of the disease, do not have any other family members with hemophilia. Some types of bleeding disorders, such as hemophilia B, are also difficult to diagnose in newborns and can’t be confirmed until a child is several months old.

Secondly, there is a lack of awareness of possible treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes. options which can be attributed to insufficient education and not sharing existing knowledge efficiently.

Finally, there is little formal assessment available showing proof that existing treatments are the most effective that can be provided, which is particularly relevant where resources are scarce. For example, what is the minimum dose which is effective for prophylaxis? What is the potential role of adjuvant therapies, like antifibrinolytics, in allowing a reduction in the required treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes. dose for acute events? Can immunosuppressant therapy can be of use when immune tolerance induction therapy is not an option, and if so, how? There are few high-quality trialsClinical trials are research studies involving people who use healthcare services. They often compare a new or different treatment with the best treatment currently available. This is to test whether the new or different treatment is safe, effective and any better than what is currently used. No matter how promising a new treatment may appear during tests in a laboratory, it must go through clinical trials before its benefits and risks can really be known., such as randomized controlled trialsA trial in which a group (the ‘intervention group’) is given a intervention being tested (for example a drug, surgery, or exercise) is compared with a group which does not receive the intervention (the ‘control group’)., undertaken for these treatments, even given potential ethical difficulties in designing such trialsClinical trials are research studies involving people who use healthcare services. They often compare a new or different treatment with the best treatment currently available. This is to test whether the new or different treatment is safe, effective and any better than what is currently used. No matter how promising a new treatment may appear during tests in a laboratory, it must go through clinical trials before its benefits and risks can really be known., and hence a lack of dataData is the information collected through research. available for researchers to systematically review.

Here’s what The Cochrane Cystic Fibrosis & Genetic Disorders Group is doing about it

Our Group has recognized these problems and we are rolling out a project aiming to firmly establish the current evidence base and hope that this will ultimately increase awareness of bleeding disorders and their treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes. options. We are challenging authors to write systematic reviewsIn systematic reviews we search for and summarize studies that answer a specific research question (e.g. is paracetamol effective and safe for treating back pain?). The studies are identified, assessed, and summarized by using a systematic and predefined approach. They inform recommendations for healthcare and research. of existing treatments for bleeding disorders to present current knowledge and, where there are gaps, to make concrete and realistic suggestions for future trialsClinical trials are research studies involving people who use healthcare services. They often compare a new or different treatment with the best treatment currently available. This is to test whether the new or different treatment is safe, effective and any better than what is currently used. No matter how promising a new treatment may appear during tests in a laboratory, it must go through clinical trials before its benefits and risks can really be known..

So far, we have published three systematic reviewsIn systematic reviews we search for and summarize studies that answer a specific research question (e.g. is paracetamol effective and safe for treating back pain?). The studies are identified, assessed, and summarized by using a systematic and predefined approach. They inform recommendations for healthcare and research. in full (see the links below) and a further nine are in progress. Some of our reviews show that there is a lack of evidence from randomized controlled trialsA trial in which a group (the ‘intervention group’) is given a intervention being tested (for example a drug, surgery, or exercise) is compared with a group which does not receive the intervention (the ‘control group’)., which is not unexpected for chronic rare diseases like hemophilia and other bleeding disorders. It is difficult and ethically challenging to plan and undertake randomized controlled trialsA trial in which a group (the ‘intervention group’) is given a intervention being tested (for example a drug, surgery, or exercise) is compared with a group which does not receive the intervention (the ‘control group’)., particularly in the wealthy Western world, where robust observational evidence has already shown treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes. to be effective.

We hope that by harnessing the global reach of The Cochrane Collaboration our reviews will firstly increase awareness of the diseases and the challenges that exist regarding their diagnosis and treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes.; and secondly highlight the need for better and stronger evidence for various treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes. options. We hope our reviews will also prompt the development of reliable analytical methods to make better and more extensive use of dataData is the information collected through research. from different studyAn investigation of a healthcare problem. There are different types of studies used to answer research questions, for example randomised controlled trials or observational studies. designs when RCTs are impossible, difficult or non-existent. We hope our efforts will pave the way to a more widespread understanding of the need to produce robust evidence in this field. Such evidence will be increasingly required to underpin care for both currently untreated and treated patients, as was pointed out in the recent HTA performed in Sweden and demonstrated by European funding for an extensive project aimed at promoting the production of evidence-based guidelines for rare diseases.

We are convinced there are effective treatments out there for patients with bleeding disorders, but we are just as well aware that much more can be done to properly show their optimal use.

Nikki Jahnke is Managing Editor of the Cochrane Cystic Fibrosis and Genetic Disorders Group and Dr Alfonso Iori  is Associate Professor at the Clinical EpidemiologyThe study of the health of populations and communities, rather than individuals. and Biostatistic Department, McMaster University, Canada and Coagulopathies Editor for the Cochrane CFGD Group. 

Links:

¹ Manco-Johnson, M (2007). Comparing prophylaxis with episodic treatmentSomething done with the aim of improving health or relieving suffering. For example, medicines, surgery, psychological and physical therapies, diet and exercise changes. in haemophilia A: implications for clinical practice. Haemophilia 13 Suppl 2: 4–9.

Iorio A, Marchesini E, Marcucci M, Stobart K, Chan AKC. Clotting factor concentrates given to prevent bleeding and bleeding-related complications in people with hemophilia A or B. Cochrane Database of Systematic ReviewsIn systematic reviews we search for and summarize studies that answer a specific research question (e.g. is paracetamol effective and safe for treating back pain?). The studies are identified, assessed, and summarized by using a systematic and predefined approach. They inform recommendations for healthcare and research. 2011, Issue 9. Art. No.: CD003429. DOI: 10.1002/14651858.CD003429.pub4.

Cochrane summary of this review.

Karanth L, Barua A, Kanagasabai S, Nair NS. Desmopressin acetate (DDAVP) for preventing and treating acute bleeds during pregnancy in women with congenital bleeding disorders. Cochrane Database of Systematic ReviewsIn systematic reviews we search for and summarize studies that answer a specific research question (e.g. is paracetamol effective and safe for treating back pain?). The studies are identified, assessed, and summarized by using a systematic and predefined approach. They inform recommendations for healthcare and research. 2013, Issue 4. Art. No.: CD009824. DOI: 10.1002/14651858.CD009824.pub2.

Iorio A, Matino D, D’Amico R, Makris M. Recombinant Factor VIIa concentrate versus plasma derived concentrates for the treatment of acute bleeding episodes in people with haemophilia and inhibitors. Cochrane Database of Systematic ReviewsIn systematic reviews we search for and summarize studies that answer a specific research question (e.g. is paracetamol effective and safe for treating back pain?). The studies are identified, assessed, and summarized by using a systematic and predefined approach. They inform recommendations for healthcare and research. 2010, Issue 8. Art. No.: CD004449. DOI: 10.1002/14651858.CD004449.pub3.

Cochrane summary of this review

This page was last updated: 31 March 2014