The Genetic Haemochromatosis Patients’ Conference 2017 was held on 01 April 2017 in Birmingham. The event brought together about 150 delegates and was the largest ever gathering of GH patients in the UK. The conference was also followed by the society’s AGM at which members dealt with the formalities for the year.
“…what a great day on Saturday. It ran like clockwork thanks to your hard work and organisation. I thoroughly enjoyed the day. It was so informative and interesting and the day passed very quickly. Every year I learn more and my understanding increases so that I know a little more. All the speakers were good and each one had a different slant on the subject. Have a well earned rest…”
Full Report from the 2017 Conference
Note that some video from the 2017 conference will be linked here shortly.
In a departure from our usual annual event format, this year the programme was adjusted to allow us to introduce more speakers, with the formal business of the charity (the Annual General Meeting, or AGM) moved to the tail end of the day and shortened quite considerably. Minutes of the AGM are sent to all paid up members.
The patients’ conference was opened by our chairman Howard Don. Howard started by commenting on the fact that the conference was our largest to date – both in terms of the programme and the number of people attending. He also highlighted the incredible list of eminent scientists and clinicians who had agreed to speak at the event, and indeed at the medical professionals’ event the day before, stating “we are incredibly privileged to have these individuals here to talk to us. It never ceases to amaze me just how generous these extremely busy and knowledgeable people are with their precious time and we none of us should forget that.”
Howard went on to introduce the first speaker Professor Pierre Brissot, an eminent hepatologist from Rennes, France who has had a lifelong interest in the science behind GH and is recognised as one of the world leading experts in the condition.
Tests, Tests and More Tests – What Does it all Mean?
Professorr Pierre Brissot, Professor of Hepatology, University Hospital Pontchaillou, Rennes, France
Professor Brissot gave a superb presentation on the testing involved in the diagnosis and management of haemochromatosis. An excellent speaker, he was able to go “back to basics” to ensure everyone in the audience understood the subject, but without losing the interest of the more experienced or knowledgeable patients in the audience. During his presentation he covered the meaning of the test for serum ferritin and what it means for the body when the results are higher than normal, before going on to a similar format to explain transferrin saturation.
Professor Brissot clarified that both tests are very important indeed, and that the measure of transferrin saturation is, in his view, probably even more important that the measure of serum ferritin. He explained that ferritin is the iron STORAGE protein in the body, and transferrin is the iron TRANSPORT protein – which he illustrated by using the analogy of a loaded ship moving materials from place to place. His premise was that once the transport system for iron was overloaded, excess “unbound” iron was the result, leading to toxicity and overload.
It became clear therefore that transferrin saturation is a crucial test in the diagnosis of GH – even more so than serum ferritin which can be elevated by other factors such as metabolic syndrome, alcohol consumption, and infections/inflammations.
However, during the de-ironing phase of treatment the monitoring of transferrin saturation is not critical, as it is known that the body’s transport system for iron remains heavily loaded (saturated) whilst storage iron is still present and being reduced to lower-than-normal levels. Only once iron stores are reduced (and serum ferritin levels very low) does the transferrin saturation level drop and again become a meaningful measure.
In maintenance (ie after deironing and with venesection being simply frequent enough to prevent iron stores building up again) transferrin saturation again becomes a crucial measure, with a level of 75% or more being an indication of the system beginning to struggle and iron loading recommencing. For this reason, Professor Brissot (along with his peers attending the previous day’s medical conference) is of the opinion that SF and TS should both be maintained at under 50 – microgrammes per litre in the case of SF and percentage points in the case of TS. He referred to this as the 50/50 rule.
We know that many of our members and other GH patient will welcome this clarity, with many hospital consultants and GPs unsure about the use of TS as a measure and sometimes unwilling to include the test on a regular basis. It also supports anecdotal evidence that some people continue to suffer serious symptoms alongside high transferrin saturation, even when the primary test conducted within a patients venesection programme – serum ferritin – is very low.
Professor Brissot also touched on the subject of genetic testing, explaining how looking for mutations in the HFE gene are a way of confirming a diagnosis of GH and also informing families of the risks of various relatives loading iron. There was debate as to what should technically constitute a diagnosis of GH, with Professor Brissot considering those who are not C282Y homozygous (ie having two copies of the specific C282Y mutation) to not be haemochromatotic. Other speakers considered that anyone loading iron should be regarded as haemochromatotic, irrespective of the exact genetic mutation or combination of mutations involved.
David Head, Chief Executive at the society, said after the presentation “There has been quite some debate in the past about what exactly defines a haemochromatotic and this would be a good subject to raise at our next scientific conference, with a view to gaining some consensus. This is especially in the light of new understanding of the genetics of iron overload and the development of new ways of measuring storage iron.”
Finally, Prof Brissot spoke about the advent of MRI scanning as a way of measuring liver iron concentration. This was subsequently covered in more detail by the afternoon speakers and later in this report.
After his presentation Professor Brissot took questions from the audience for about 30 minutes. This was a unique opportunity to take advantage of a world leading expert and there was no shortage of questions, ranging from queries about the risks to family members, to dietary considerations, access to genetic testing, and much more. One particular topic raised by several people was the issue of securing regular testing for transferrin saturation and additional venesection if it remains high even when serum ferritin is on target. Inconsistencies across the UK are something the society wants to address over the coming year.
The GH Patient Pathway Through The NHS Blood Service
Dr Naim Akhtar, Clinical Support Team, NHS Blood & Transplant (NHSBT)
After a short coffee break, Howard introduced our second speaker Dr Naim Akhtar. Dr Akhtar works for the clinical support team at the NHS Blood and Transplant service (NHSBT) and was previously a Consultant Haematologist based in London. In introducing Dr Akhtar Howard observed how the issue of GH patients giving blood comes up time and time again at the society’s meetings and conferences, and invited him to explain the processes involved.
It transpires that NHSBT are in the process of reviewing the way in which they work with GH patients, and more broadly, reviewing and revising the way in which they balance the demand for blood and plasma with the supply from donors.
The current pathway for GH patients, it was agreed, is more bureaucratic than is ideal, and NHSBT are keen to rationalise things and to get as many or our patients as possible able to donate in the usual way, without unnecessary complications. This does have to be balanced however with the need for NHSBT to be confident that patients are still being monitored correctly for their iron levels and for GH symptoms, something their staff are unable to do and that has to remain firmly the responsibility of the individual’s hospital consultant.
Dr Akhtar went on to affirm that NHSBT would work with the society to streamline things. He also explained that NHSBT were shortly moving to a more demand led approach to managing blood and plasma supplies and that this too would have an impact.
Using this approach, he explained, would mean that rather than blood donors giving whenever they were willing, wanting and able to do so, and the service making best use possible of the resulting stocks, some donations would be triggered by demand from the hospitals. This would result in donors on the register being requested to donate based on need, blood group, and perhaps some other factors. The impact on GH patients of course is that it might not always be possible to donate when a treatment is recommended or required, meaning that the venesection clinics would still have an ongoing role at times.
The audience was appreciative of the fact that we had been given far more information about the blood service than ever before, and that Dr Akhtar was very keen to improve the experiences of GH patients.
Did you know?
NHSBT handle about 2 million blood donations a year …
NHSBT run 420 vehicles covering 6.6 million miles making 150,000 deliveries each year …
They run 24 donor centres and 53 mobile teams …
Every individual unit of blood is tracked and accounted for …
Demand for blood has fallen in recent years due to improved practices in maternity units and A&E units …
When Things Go Wrong
Mr Tim Spring, Partner, Moore Blatch Solicitors
Tim Spring was introduced as our third speaker; Tim is a council member of the Royal Society of Medicine’s Patient’s Safety Section and a solicitor with extensive experience dealing with medical negligence cases.
This is the first time we have had a legal expert discuss the options open to patients at one of our events, and very interesting it was too. Tim did a good job of putting things into perspective, pointing out early on that the vast majority of patient complaints get resolved at an informal or formal level at the hospital concerned, and in reality it is very rare for a case to be prosecuted as medical negligence in the courts. Even where cases are progressed through the legal system, in the vast majority of cases they are settled before reaching the courtroom.
Tim’s presentation included brief summaries of several case studies involving genetic haemochromatosis from his professional experience. These included where cases had been made as a result of delayed diagnosis, missed crucial test results, misattribution to alcohol, and so on. He also outlined the process through which a patient needs to go before taking more formal action, starting with informal discussions with the doctors concerned, progressing to working with the hospital’s Patient Advice and Liaison (PALS) service, through formal complaints procedures and ultimately to legal action. He pointed out that even at the very early stages it is important to document or record everything properly, in preparation for having to go through more formal processes later and being able to demonstrate that all of the correct procedures have been followed.
Tim spoke extremely well giving a very informative presentation on an interesting and perhaps even slightly controversial subject, and gave many in the audience food for thought (something that was reflected in the questions he received afterwards and over the lunch break!).
Lunch and “The Buzz”
We have always maintained that one of the most important aspects of our patient meetings large and small is the opportunity patients have to talk to each other informally and share their experiences and questions. This year we incorporated a full hour and a sit down lunch to enable people to do this in a relaxed atmosphere. The venue did us proud with the catering and facilities and this is certainly something we will be including in our future events.
All of our speakers and the staff and trustees present also joined the conversations, giving everyone the chance to ask questions about the society and our plans as well as about the science of haemochromatosis. With 150 people sat in the restaurant area there was very good “buzz” indeed.
The afternoon session which followed incorporated four short presentations from scientists followed by an hour-long Q&A session.
The Clinical Application of MRI Technology
Dr Barbara Butzeck, Consultant Radiologist, Groenemeyer-Institut, Bochum, Germany
The second of our overseas speakers, Dr Butzeck explained the role of magnetic resonance imaging (MRI) technology for haemochromatosis patients.
MRI is rapidly replacing the use of liver biopsy to directly measure liver iron concentration (LIC). We learnt about the technical progress being made and how the procedure is cheaper, more accurate, safer, quicker, non-invasive and painless compared to biopsies. Barbara described how the data from an MRI scan is analysed using new techniques to provide accurate and clear diagrams of liver iron concentrations across the whole of the organ, rather than just measuring the iron found in a tiny piece of extracted tissue.
We were also interested to learn that many patients who saw the direct results of the scans could better understand the damage and threats to the liver and other organs, and as a result were more highly motivated to address issues such as diet, exercise, weight loss and alcohol consumption. She encouraged patients – and the society would endorse this – to ask their consultants about MRI scanning using Ferriscan or LiverMultiScan, the two proprietary systems currently available in the UK, and suggested that biopsy is now no longer the preferred diagnostic tool for LIC unless there were other reasons for the procedure which justified its use.
GH and Your Haematologist
Dr Edward (Ted) Fitzsimons, Consultant Haematologist, NHS Greater Glasgow & Clyde
Dr Fitzsimons is well known to many of our members having spoken at a previous conference and at an event organised in Glasgow in late 2015, as well as appearing on our YouTube channel explaining the roles of serum ferritin and transferrin saturation tests.
In this session he took the opportunity to refresh our knowledge of these subjects and add more detail to the presentation given earlier by Professor Brissot. He too made it clear that monitoring transferrin saturation is crucial in maintenance, and explained how a 2015 study of patients in Scotland had demonstrated how a more structured testing and follow up regime could lead to earlier diagnosis and treatment for people affected by iron overload.
Dr Fitzsimons is an excellent speaker who is able to really help patients understand their condition, and we welcomed his occasional touch of light hearted humour too.
Genetic haemochromatosis and joint disease
Dr Patrick Kiely, Consultant Rheumatologist, St George’s Hospital, London
Our third afternoon speaker visited a subject that affects a majority of GH patients, ie joint disease in patients with iron overload, which he referred to as haemochromatosis arthropathy (HA).
Dr Kiely outlined the results of patient studies over the last three years, including quite a few very interesting statistics which have led him to conclude that HA should be recognised as a very clear indicator of GH and could significantly accelerate diagnosis if this were the case. He pointed out, for example, that the study had identified that 55% of patients are diagnosed as a result of symptoms (as opposed to family or random screening) but joint symptoms are present in over 75% of patients PRIOR to diagnosis, and in 47% of those for over 5 years.
Dr Kiely’s work has given us important messages to convey to GPs and rheumatologists, who are in a position to identify GH much earlier on average with a better awareness of HA.
As final food for thought at the end of a very good talk, Dr Kiely pointed out that even after de-ironing, patients generally continue to suffer joint disease and various joints continue to deteriorate quite badly. He also identified that patients who are not loading iron, but who are positive for the C282Y mutation on the HFE gene, often suffer with similar arthropathy, leading him to question whether the impact of iron on the joints is the full story – perhaps the mutation is causing damage through other mechanisms too? We will watch for further research into this important topic with great interest.
An introduction to genetics and inheritance patterns in GH
Dr Kathryn Robson, Geneticist, Weatherall Institute for Molecular Medicine, Oxford University
Dr Robson is another long standing scientific “friend” to the society with a very in depth understanding of the genetic of iron overload and who is conducting important research at Oxford University.
However for her presentation, the last of the day, she went right back to basics to put a lot of what had been discussed during the event into context. She outlined the role of our genes and DNA, and the effect that different types of mutations (alterations, flaws) can have. As a personal interest and hobby Dr Robson breeds pedigree cats, and she was able to use examples from that experience of how changes in genes can have an impact on the instructions they carry from generation to generation.
Dr Robson also explained how advances in the technology available to geneticists was enabling them to identify the role of more genes, and the impact of more mutations. She expressed a view that genetic haemochromatosis is much more complex than being linked only to the C282Y mutation that is usually tested for, and that in many cases of iron overload more than one gene is involved. Currently genetic testing in her laboratory for GH extends to a panel of 16 genes and many mutations, which gives us an indication of just how complex things might be.
Dr Robson had also arranged for each of the delegate packs for the event to include two pieces of coloured card – one red and one blue, representing the genes inherited from each parent. On some of each colour were noted various mutations, which helped the audience understand how combinations could randomly occur, and explained the difference between a heterozygote and a homozygote. This became a bit of a talking point after the presentations.
The last hour of the patient conference was dedicated to answering questions from the floor. The panel of Drs Butzeck, Kiely, Robson and Fitzsimons fielded a wide range of questions on many aspects of haemochromatosis, not just the four specialities they represent.
The Haemochromatosis Society would like to acknowledge the support of our many eminent speakers, without whom the conference would simply not have been anywhere near as interesting, informative and supportive as it was. We look forward to welcoming members and other patients to equally fascinating future conferences.
The Genetic Haemochromatosis Patients’ Conference is an Annual Event
Details of the next annual Genetic Haemochromatosis Patients’ Conference will be found at http://haemochromatosis.org.uk/support/conference/