I was privileged in October 2015 to travel to Cologne in Germany and represent The Haemochromatosis Society (UK) alongside our Chair Howard Don and scientific adviser Prof Rob Evans, at meetings of EFAPH and IAHA.
EFAPH is the European Federation of Associations of Patients with Haemochromatosis. The 11th annual meeting consisted of a day of presentations and discussions with scientists and clinicians on many aspects of genetic haemochromatosis, followed by a day allocated to the organisation’s business and General Assembly.
IAHA is the International Alliance of Haemochromatosis Associations, a fledgling organisation in the process of being formed and constituted, that will ultimately be based here in the UK. Our third day on Cologne was set aside to work on this alongside representatives from 15 countries around the world.
Day 1: EFAPH ‘Reflections of Clinical and Practical Aspects of GH’
EFAPH had done a fine job of securing some excellent speakers, including top scientists and clinicians from across Europe.
After a series of introductory talks and administrative points, we heard first from Professor Pierre Brissot, who updated the delegates with feedback from the recent international bio-iron conference in Hangzhou, China. This important scientific conference, which takes place every two years, covers much more than GH, so it was useful for us to have a lay-level summary of relevant developments.
Of particular interest were discussions on the genetics of haemochromatosis, and increasing evidence for the condition being caused by combinations of genetic flaws, some of which are well documented – notably HFE C282Y – and some of which remain to be identified.
Also interesting were discussions about testing for GH, with there being differences of opinion even amongst eminent experts as to the relative importance of SF, TS and genetic testing, and resulting figures.
A large part of the afternoon was given over to the subject of GH and blood donation. We heard from speakers from Germany and Spain as to the processes in place in their countries, by way of examples. We were also interested to learn that in some countries payment is made for blood donation, and payment is required for venesection. These financial motivators are factors that need to be taken into account at a European level, even though neither applies in the UK .
Early in 2015 EFAPH had commissioned and run a survey through member organisations of patients views on GH and blood donation. Not surprisingly, the vast majority from all countries felt that blood should be accepted from GH patients once they have been de-ironed through venesection. However we also heard from scientists about concerns about the quality of red blood cells from GH patients. The discussions was interesting but inconclusive and in the meantime we will continue in the UK to work to ensure that there is a good understanding of the current guidelines from the NHS Blood Service, which does indeed accept such donations.
Towards the end of the session we heard again from Professor Brissot, who explained the science behind transferrin saturation, ferritin levels and venesection. He presented an excellent and clear explanation of the role of transferrin to the lay audience, including an explanation of why TS can remain very high until storage iron levels in the body are normalised (as represented graphically on this page).
The late afternoon session was dedicated to the subject of arthropathy in GH patients.
The session was opened with an excellent presentation from Dr Patrick Kiely, one of our medical advisers here in the UK and an excellent rheumatologist based in London. We heard about research at his own clinic, with over 60 patients surveyed and examined in great detail. This research had been conducted with the help of many members of The Haemochromatosis Society and we will be publishing a report on this website separately very soon, including Dr Kiely’s slides and comments.
The important point that emerged was that arthritis in the hands and feet, coupled with fatigue, are extremely important diagnostic markers for GH. This didn’t come as a surprise at all to the many patients present, but it is evident that there isn’t the understanding amongst rheumatologists more widely of the importance of following up with iron level testing. We will be working to try and change this over the coming months using Dr Kiely’s results.
Alongside Dr Kiely in this session we heard from Dr Stephanie Finzel (Germany), who showed us the results of amazing improvements in medical imaging technology. Fascinating, highly detailed 3D images of bone structures are created using MRI (Magnetic Resonance Imaging) and CT (Computer Tomography) technologies, which are of immense benefit in diagnosis and in planning surgery.
Also presented was a somewhat gruesome but fascinating video of a knee replacement operation, which served of course to illustrate the expertise of the surgeons as they interpret scans and symptoms and then operate to reduce a patient’s suffering.
During the day there were valuable opportunities for all of the delegates to talk to the speakers, both formally in Q&A sessions and informally over coffee. We would recommend that if patients have the opportunity to attend a future EFAPH conference that they do so; the whole day was incredibly informative.
Day 2: EFAPH General Assembly
The AGM of EFAPH was more about the management of the organisation, and an opportunity to learn about how each of the national organisations present were working in their respective countries. The Haemochromatosis society (UK) is one of only two of the national organisations that employ staff (the other being the Canadian society) and we had an opportunity to explain why we have taken this route when it was our turn to present. We also described our work to create training materials for pharmacists and pharmacy staff, which was extremely well received; as a result we will be co-operating with our counterparts in other countries if they want to replicate or translate our work.
EFAPH itself is largely the result of work by Dr Barbara Butzeck from Germany over the last 11 years or so, so we were pleased to see her re-elected as President of EFAPH. Other members of the EFAPH committees were also elected, including Prof Rob Evans to the scientific committee. We are very pleased to support EFAPH with our continued membership and pleased that the UK is represented in this way.
The meeting also approved the financial report and activity report from the board, and agreed some changes to the EFAPH constitution. The next meeting of EFAPH is planned in Austria in 2016 and information is always available at www.efaph.eu.
Day 3: IAHA Meeting
This one-day session was, technically, the third meeting of IAHA. However the first two meeting have been relatively informal attempts to start the International Alliance of Haemochromatosis Associations by a small group, and this was the first time so many countries had gathered together to progress things.
From outside Europe, we were joined by representatives from Australia and from Brazil.
The first half of the session was an opportunity for each of the individual representatives to outline the issues faced in their own country. None of the issues raised was particularly surprising – the need for support, information, awareness, education, and research is common to all patients around the world. However it was interesting to learn of the different approaches being used and also re-assuring in many ways to know that we were all ‘in it together’ facing the same problems.
Interesting debate ensued about the best ways to engage with patients – especially online, the different levels of understanding of GH amongst GPs, the different TS and SF levels used as guidelines in monitoring, the need to fund research, the role of patient organisations and their memberships, and much more.
Emerging from this was a clear need for the IAHA, as it forms and becomes a credible umbrella organisation in its own right, to be providing international guidelines and working for the spreading of consistent and best practice.
The second half of the session was focussed on the organisation and function of IAHA; officers were elected, finance discussed, and priorities set for the next few months. The IAHA will soon be launching a website of it’s own which will include links to all of the national organisation and start to demonstrate our collaborative approach to tackling the issues surrounding the diagnosis and treatment of genetic haemochromatosis.
Author: David Head
Date: October 2015