BIRMINGHAM CONFERENCE PROF PIERRE BRISSOT

March 2017

Prof Pierre Brissot from Rennes spoke at the recent conference in Birmingham

During his presentation he explained the meaning of the test for serum ferritin and what it means for the body when the results are higher than normal, before explaining transferrin saturation. Professor Brissot clarified that both tests are very important but that the measure of transferrin saturation is, in his view, probably more important than 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 (i.e. after de-ironing and with venesection frequent enough to prevent iron stores building up again) transferrin saturation again becomes a crucial measure, with a level of 75% or more indicating that the system is beginning to struggle and that iron loading may be recommencing. For this reason, Professor Brissot, along with his peers at the previous day’s medical conference, is of the opinion that serum ferritin should be maintained at under 50 microgrammes per litre and transferrin saturation at under 50 percentage points; 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. ( If TS remains high even when serum ferritin is on target; inconsistencies in testing in the UK are something the British society wants to address over the coming years)

Professor Brissot also touched on the subject of genetic testing, explaining how mutations in the HFE gene can confirm a diagnosis of GH and also inform families of the risks to various relatives of loading iron. There was debate as to what should technically constitute a diagnosis of GH, with Professor Brissot considering those who do not have two copies of the 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. of new ways of measuring storage iron.” Finally, Professor Brissot spoke about the advent of MRI scanning as a way of measuring liver iron concentration.