Deciphering haemophilia
As a rare medical condition, haemophilia comes with its own vocabulary; this can often feel like the clinical team are speaking a completely different language! The words that doctors and nurses use when they talk about haemophilia can be confusing and are often very different from how people with haemophilia may describe living with their condition.
Making sure everyone understands one another can be a challenge, and things can get lost in translation, but it’s important for everyone involved in haemophilia care to recognise the different ways of talking about, and understanding, key terms. That’s why I’ve gathered together some common medical terms and described what these mean and what they mean to me, in my everyday life with – and beyond – haemophilia... I hope you find these helpful.
Written by James Gorman
James is 30 years old and has severe haemophilia A. In addition to the insights he has provided in this glossary, James has also written blog posts for haemophilia.
Remember, you should always consult your haemophilia team to discuss any decisions that have an impact on your treatment.
Adherence
Adherence is used to describe the extent to which a patient follows the treatment plan prescribed by their doctor. In haemophilia, this means sticking to the prophylaxis schedule developed by the clinical team, but might also extend to following a physiotherapy regimen.1
Throughout my teens, I wasn’t the most reliable patient! I’d often slip up and forget to do my prophylaxis, or lapse into simply treating on-demand. I found the language of ‘adherence’ and ‘compliance’ made it feel like I was a failure or doing something wrong, and it was difficult to talk about the barriers that were preventing me from sticking to my treatment.
Advocacy
Advocacy is when people provide support or recommendations for an idea, plan or way of doing something.2 People with haemophilia are becoming increasingly important in providing a ‘patient perspective’ around the future priorities for haemophilia care.
I’ve been particularly inspired by many of my peers who use their voice to make sure that people affected by haemophilia have access to the best possible treatment and care.
Comprehensive care
As a complex, lifelong condition, haemophilia requires ‘comprehensive care’. Comprehensive care is a holistic approach to treatment which goes beyond simply treating bleeding. This approach involves managing the physical, emotional and social aspects of haemophilia, with an integrated team of medical specialists from multiple different fields.3
Although I aim to live my life beyond haemophilia, I can’t get away from the fact that it does – occasionally – influence how I live my life. Knowing that I can go to my haemophilia centre for support about things other than bleeding has made me more confident about my condition and my ability to pursue an independent lifestyle.
Factor half-life
Half-life is a measure of how long haemophilia treatments stay in a person’s body. It is the time it takes for the level of the haemophilia treatment to drop by 50% (or half).1 Different factors have different half-lives.4 Naturally, factor IX has a longer half-life than factor VIII meaning it stays active in the body for longer.5,6 Moreover, different people break down the same factor at different rates.7–10 This means each factor has a range of half-lives.8–10
I found that despite my treatment, I was still getting ‘breakthrough’ bleeds. My doctors found that I was metabolising Factor fairly quickly, meaning my Factor had a relatively shorter half-life, so increased how often I took my treatment to ensure that I had a consistent level of clotting factor.
Health literacy
Health literacy is a term for the skills, motivation, and ability to access, understand, and use health information to make appropriate health care decisions.3 Whilst a focus on patient-centred outcomes in haemophilia care means being able to ask for what you want from your care, this also involves knowing what this might be. Access to information is greater than ever before and there are several routes you can take to learn about new and existing treatment options. For example, websites, patient groups, nurse appointments, leaflets or posters, and scientific papers.
I’ve found that having the knowledge and understanding about haemophilia, and having the confidence to ask my healthcare team relevant questions, is crucial to becoming an active partner in the decision-making processes about my treatment and overall health.
On-demand
Treatment on-demand in haemophilia is the opposite to prophylaxis – rather than actively preventing damage from a future bleed, treatment on-demand is treating a bleed after it has occurred, such as after an injury.11
I went through a phase of treating ‘on-demand’. At the time, it made much more sense to me to only need to treat when something was actually wrong – such as a bleed. It seemed a waste of time and effort to be injecting multiple times a week for – what seemed like – no good reason! Of course, I was wrong! It was only when I stopped my prophylaxis regimen that I began to see how much it protected me. Remember you should always make sure that you stick with your prescribed treatment regimen and discuss any concerns that you may have about your treatment with your doctor.
Pain
Pain is a highly unpleasant physical sensation caused by illness or injury.12 Ongoing pain or regular painful episodes can greatly interfere with a person’s quality of life and general functioning.13 Pain is also a very complex, individualised and subjective experience. It can be hard for one person to explain the type and intensity of their pain to another person. People with haemophilia often experience both ‘acute pain’, an instant response caused by bleeding into a joint or muscle, and ‘chronic pain’, an ongoing pain caused by repeated
joint damage from bleeding incidents.13
Managing pain has been an important part of my life with haemophilia. Pain affects my ability to work, travel, and have fun. Learning to differentiate between the acute pain caused by a bleed, and the chronic pain that is more long-term has been important in being able to better manage my treatment, but also communicate with doctors when I think a new joint is becoming a problem area.
Patient empowerment
Patient empowerment is defined by The European Patient Forum as a process through which patients are “involved in the decision-making and management of their condition according to their preference, whilst raising awareness about their rights and responsibilities”.15 Patient empowerment in haemophilia allows individuals to feel heard when decisions are made about their health.15 As people who live with haemophilia every day, we bring a unique level of expertise and knowledge that can, and should, shape the healthcare that we receive.
One of the greatest ways in which I became more empowered and gained more control over my health and haemophilia management was to learn more about the condition. A broader understanding of my condition allows me to have a higher level of input over treatment decisions and individual actions affecting my haemophilia – this allows me to feel confident that I can live my life beyond haemophilia.
Patient-centred approach
A patient-centred approach to haemophilia involves focusing on an individual’s specific healthcare needs and goals alongside clinical expertise. A patient-centred approach considers what is important to people affected by haemophilia, their values and focuses on shared decision making.14 It involves getting people with haemophilia involved in their own care – asking them what they would like to achieve from their treatment. Is it an increase in quality of life or reducing the number of absences from school or work? Or is it finding a way to continue to exercise whilst on treatment?
Knowing that my haemophilia care team is interested in enabling me to live a life beyond haemophilia has meant that I feel confident in raising questions and letting them know what is important to me. This has meant that my treatment and care can be adjusted to accommodate my own goals and plans, fitting around travel, work, and fun, rather than getting in the way of it!
Physiotherapy
In haemophilia care, physiotherapy is a series of movements and exercises which can be used to help treat problems with the muscles and joints, after a bleed.2 Haemophilia physiotherapy is also becoming more proactive, rather than reactive, with physiotherapists using physical activity to help protect and strengthen target joints preventing longer-term problems.16 Physiotherapists are also experts on helping people maintain and improve their health and fitness – in a safe way – within the context
of haemophilia.16
Having a specialist haemophilia physiotherapist involved in my care has improved my joint health dramatically. Attending physiotherapy sessions has taught me about the need to recover well, not just from the bleed, but from the loss of muscle strength. Whilst I’ve not always found it easy to incorporate their weird and wonderful exercises and stretches into my day, I do try and make time to do my ‘heel lifts’ and ‘single leg balances’ whilst I’m making a cup of tea – even if I do look slightly strange in the work kitchen!
Prophylaxis with clotting factor therapy
Despite its complicated spelling, prophylaxis is simpler than it sounds – it is the term used for a regular course of treatment to prevent bleeds.17 Prophylactic treatment consists of regular intravenous injections, for example, two or three times weekly, to maintain minimal clotting factor activity levels and prevent bleeding.18,19
What it involves in practice will vary for each person with haemophilia. In my life, I have been on various prophylaxis regimens to include treating three times a week. Integrating a regular schedule of treatment into everyday life can – at least from my experience – be more challenging than clinical teams might expect. Living life beyond haemophilia meant that prophylaxis wasn’t always at the forefront of my mind and would quickly slip down my ‘to-do’ list on busy days – with obvious consequences! Now that I am older and understand the need for it, I make more of an effort to schedule time to do my prophylaxis, setting regular reminders, and getting friends to hassle me!
Scientific research
Scientific research into haemophilia encompasses a wide array of research. This includes understanding the basic principles of how haemophilia affects the human body, assessing the effectiveness of new and existing drugs, or even research into how nurses and physiotherapists can best deliver quality haemophilia care.
Importantly though, the role played by people with haemophilia in research is changing. Scientists and healthcare researchers are increasingly keen to actively involve people affected by haemophilia in research. These kinds of insights and real-life input is often invaluable to research and pharmaceutical companies. Personally, I find this really exciting, it’s fantastic to be able to have a say in the future of haemophilia treatment and care.
Spontaneous bleeding
A ‘spontaneous’ bleed is one of the key traits of haemophilia. It is bleeding that appears without any apparent or obvious external cause or reason.11 It’s often the main type of bleed that doctors want to know about – particularly if the bleed occurs during prophylaxis. A bleed during prophylaxis – or a ‘breakthrough bleed’ – might suggest that a target joint is developing, or that a change in prophylactic treatment is needed.
Of course, what counts as ‘spontaneous’ can be quite tricky to define. I’ve found that I don’t always remember ‘doing’ something and thinking that an ankle bleed might be spontaneous. But then my partner will remind me that I tripped on a kerb the previous day! What I count as a spontaneous bleed might be very different to how my doctors define and categorise bleeding events – I’ve always found it useful to have a discussion to help clarify things.
Synovitis
Synovitis is the inflammation of the synovial membrane, which surrounds joints. It can be caused by repeated bleeding into a joint and usually causes pain and reduced movement.11,17
As people with haemophilia, we are taught from an early age that pain is an early warning of an active joint bleed, but pain can also be caused by longer-term joint damage. For me, one of the challenges of getting older has been learning to differentiate pain caused by synovitis from pain caused by a joint bleed, and if this requires treatment. Being able to discuss this with physiotherapists in particular has helped me learn more about my own body and become more aware of what is ‘normal’ for my joints at this stage in my life.
Target Joint
A target joint is one that has repeated bleeds. Technically, it is defined as a joint that has three or more spontaneous bleeds within a six-month period.20 It can be a little confusing, because the terminology sounds like there is only one ‘target joint’ – the worst one – but actually you might have multiple target joints.
Knowing what my target joints are has meant that I am more aware of the implications bleeds have for these joints and I take recovery and physiotherapy seriously. It’s also meant recognising that these ‘targets’ are more prone to bleeding, thinking about how to look after them and taking more time for rest and recovery than I might do for non-target joints. I am trying to be more mentally prepared for bleeding events in target joints, so that it’s not as much of a shock or disappointment when bleeds happen. Thinking about the concept of ‘target joints’ has also made me acutely aware of my bleeding events and actively trying to prevent further ‘targets’. I also feel confident about raising my concerns with my doctor.
Transition
Haemophilia care centres often refer to ‘transition’ – this is the transition from services for young people to adult-oriented
health services.21
Having grown up going to a haemophilia centre at a children’s hospital, suddenly transitioning to an ‘adult centre’ was quite a terrifying experience. But it also came with much more independence, respect and the encouragement to have a key role in managing my haemophilia. I’ve since ‘transitioned’ between different haemophilia centres several times, as I’ve moved around the country. It’s definitely a strange experience going to a new centre for the first time and it still takes a while for me to feel confident in being able to speak openly to new centre staff. However, having the freedom and mobility to go to different centres has enabled me to pursue life beyond haemophilia.
Treatment burden
Treatment burden is defined as the patient’s perception of the effort required to manage their health condition(s) and the impact this has on their wellbeing and day-to-day life.22
Haemophilia management is rarely as simple as taking a pill. The time and energy required to do a regular injection all adds up, on top of the usual stresses of everyday life. There are lots of ‘hidden’ aspects too – taking the time to attend clinic appointments, keeping on top of physio exercises, negotiating time off work and school, making sure you keep your treatment records up to date... it can be frustrating and isolating having to do all of this ‘extra stuff’, just because you have haemophilia. For me, it can sometimes feel like the ‘management’ of haemophilia is a bigger hassle than the condition itself – though that’s clearly because I’m lucky to be in a good place with my treatment! Talking about the ‘burden’ of treatment has been important in discussions with my clinical team, as it helps them to understand how different treatment regimens may impact – or even interfere – with my everyday life. Being able to communicate this has helped me to design a treatment plan that fits with my life and enables me to live life
beyond haemophilia.
Trough level
A trough represents the lowest level of Factor in the blood and a peak represents the highest level of Factor in the blood. Within a population of people with haemophilia the levels of Factor are associated with bleeding, but this is not true for individuals as each persons level of Factor can vary. Where Factor peak and trough levels are useful to see the big picture they can't be used to set an overall trough and peak threshold for treatment. However, they can be useful when monitoring an individuals response to treatment to help doctors individualise and
adjust treatment.23
Obviously, being able to understand all of this, and plot it on a graph, means data. My resounding memories of doctors being able to calculate trough levels is an extended series of blood tests to calculate how often I should take my treatment. Whilst finding the time to stay in or frequently pop back to the centre for tests was a little inconvenient at the time, having my haemophilia team accurately calculate how often I need to take my treatment has meant I can be more confident that I’m protected from
bleeding incidents.
Venepuncture-Venous access
Venepuncture, or venous access, are the medical terms for being able to access the bloodstream through the vein. In haemophilia care, these terms usually refer to being able to administer treatment or to take blood samples for testing purposes.24
Maintaining vein health so that you have good venous access is important. Using one vein for lots of injections causes the skin to become tough, making venepuncture tricky and sometimes impossible. I ended up losing access to my ‘favourite’ vein (there is definitely such a thing!) because I didn’t rotate my injection sites often enough. I’ve since learned to treat all of my injection sites equally, and not have favourites!
NP-10598 | Date of preparation: July 2020
- European Patients’ Academy. Glossary. Available at: www.eupati.eu/glossary/ (Accessed 03 April 2020).
- Cambridge Dictionary. Available at: dictionary.cambridge.org/dictionary/english/ (Accessed 03 April 2020).
- AAFP. Available at: www.aafp.org/about/policies/all.html (Accessed on 03 April 2020).
- Brummel Ziedins K, Mann KG. Overview of hemostasis. Textbook of Hemophilia 3rd edition. 2014.
- Mancuso ME, Santagostino E. Outcome of Clinical Trials with New Extended Half-Life FVIII/IX Concentrates. J Clin Med. 2017 Mar 28;6(4).
- Morfini M, Coppola A, Franchini M, Di Minno G. Clinical use of factor VIII and factor IX concentrates. Blood Transfus. 2013 Sep;11(Suppl 4):s55–63.
- Graf L. Extended Half-Life Factor VIII and Factor IX Preparations. Transfus Med Hemother. 2018 Apr;45(2):86–91.
- Lillicrap D. Extending half-life in coagulation factors: where do we stand?. Thromb Res. 2008;122 Suppl 4:S2–8.
- McEneny-King A, Iorio A, Foster G, Edginton AN. The use of pharmacokinetics in dose individualization of factor VIII in the treatment of hemophilia A. Expert Opin Drug Metab Toxicol. 2016 Aug 19:1–9.
- Hazendonk HCAM, van Moort I, Mathôt RAA, Fijnvandraat K, Leebeek FWG, et al. Setting the stage for individualized therapy in hemophilia: What role can pharmacokinetics play? Blood Rev. 2018 Jul;32(4):265–71.
- The Haemophilia Society. Understanding haemophilia. Available at:haemophilia.org.uk/ wp content/uploads/2017/04/Understanding_haemophilia_WEB.pdf (Accessed 03 April 2020).
- Oxford Concise Medical Dictionary. Available at: www.oxfordreference.com (Accessed 03 April 2020).
- Tagliaferri A, et al. Pain assessment and management in haemophilia: A survey among Italian patients and specialist physicians. Haemophilia. 2018;24(5):766–73.
- Hashim MJ. Patient-centered communication: basic skills. Am Fam Physician. 2017;95(1):29–34.
- European Patients Forum. Toolkit for patient organisations on patient empowerment. 2017. Available at: www.eu-patient.eu/globalassets/library/publications/ patientempowerment---toolkit.pdf (Accessed 03 April 2020).
- St George's University Hospitals. Phsiotherapy for people with bleeding disorders. Available at: www.stgeorges.nhs.uk/service/diagnostic-services/haematology/centre-for- haemostasis-and-thrombosis-haemophilia-centre/physiotherapy-for-people-with-bleedi ng-disorders/ (Accessed June 2020).
- National Hemophilia Foundation. Glossary. Available at: www.hemophilia.org/Glossary (Accessed 03 April 2020).
- Hoefnagels JW, et al. The perspectives of adolescents and young adults on adherence to prophylaxis in hemophilia: a qualitative study. Patient Prefer Adherence. 2020;14:163–71.
- Ar MC, Balkan C, Kavakli K. Extended half-life coagulation factors: A new era in the management of hemophilia patients. Turk J Hematol. 2019 Aug;36:141–54.
- 20 Guidelines For The Management Of Hemophilia. WFH. Available at: www1.wfh.org/publications/files/pdf-1472.pdf (Accessed 11 May 2020).
- NICE Guidance. NG43. Available at: www.nice.org.uk/guidance/ng43/chapter/ Implementation-getting-started (Accessed 03 April 2020).
- Gallacher KI, et al. A conceptual model of treatment burden and patient capacity in stroke. BMC Fam Pract. 2018;19(1):9.
- Fischer K, Berntorp E. Targeting factor replacement therapy in severe hemophilia: which level is important? Semin Thromb Hemost. 2015 Nov;41(8):860–3.
- East Lancashire NHS Trust. Venepuncture. Available at: www.eastlancsdue.nhs.uk/ images/Venepuncture.pdf (Accessed 03 April 2020).