Haemochromatosis International had its first AGM as a newly registered Charitable Incorporated Organisation on April 10th 2016. The location was Innsbruck, to coincide with the European Iron Club (EIC) scientific meeting, and the European Federation of Associations of Patients with Haemochromatosis (EFAPH) AGM. Present were representatives from Australia, Austria, Belgium, Brazil, France, Germany, Hungary, Italy, Netherlands, Norway, Portugal, Spain, and the UK.
After the formal part of the AGM, talks started with an update on EIC and hereditary haemochromatosis (HH) news from Prof Pierre Brissot.
The first of two sessions focussed on developing international recommendations for diagnosing and treating HH followed, with a comparative analysis of the quality of existing guidelines by Annick Vanclooster, and the Dutch HFE-HH guidelines, an assessment of critical issues by Cees van Deursen.
The early stages of input gathering from national HH associations on key issues followed (Ben Marris, Paulo Santos, Emerência Teixeira).
The EFAPH-HI meeting then joined forces with the non HFE Registry Group meeting running concomitantly, to hear about EFAPH projects, the HH-Arthropathy Working Group (Barbara Butzeck), the European Survey on Blood Donation: final results (Emerência Teixeira), World Blood donor Day (June 14th) (Francoise Courtois), and news about the European Reference Networks – ERNs (Graça Porto).
The second session on the development of recommendations followed, with discussion, propositions, and next steps led by Ben Marris and Paulo Santos. To summarise these discussions briefly, it is clear that there is insufficient research done on which to base evidence based guidelines for the treatment of HH, and therefore a consensus of expert opinion will be sought. These will be termed “recommendations” rather than “guidelines”, and will be simple and straightforward. Two publications will be developed, one aimed at patients and one aimed at general practitioners.
Two issues arise initially as needing clarification:
- There is no consensus on when to start venesection, and a serum ferritin level needs to be established for this. Clinicians more used to treating b-thalassaemia do not realise that the nature of ferritin iron loading in haemochromatosis is different to b-thalassaemia, and that ferritin in haemochromatosis is more toxic.
- The role of transferrin saturation testing during the maintenance stage of therapy is not established. Specialist clinicians agree the need for this, but it is not being done routinely.
A task force has been setup to work on these HFE-HH recommendations, comprising: Pierre Brissot, Paulo Santos, Emerência Teixeira, Ian Hiller, Graça Porto, Robert Evans, Sonia Distante, Domenico Girelli, Brigitte Pineau.
We gratefully thank Heinz Zoller for his assistance with organising this meeting.