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Dr
Shearman introduction:
Dr Shearman
qualified in Leeds and then worked as a junior
doctor in Oxford, John Radcliffe Hospital where
he first got involved in treating patients with
Haemochromatosis. Dr Shearman undertook a period
or research at John Radcliffe, funded by the
Welcome Trust, on molecular genetics of
Haemochromatosis. Dr Shearman stated that the
genetic basis was indentified in the mid-70s and
the gene was found after a protracted process of
investigation in 1996. `It was a relief to him`.
´90% of patients had 2 copies of the mutation
and testing systems are becoming more
sophisticated´.
After
working on research Dr Shearman moved to South
Warwickshire Foundation Trust.
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Haemochromatosis is
quite variable in its presentation;
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Diagnosis is not
always welcome;
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Treatment is
considered to be a pain in the neck;
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Advice from doctors is
often variable and inconsistent.
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Dietary Changes
A.
Haemochromatosis is quite variable in its
presentation;
(JS)
noted
that their there was a wide variation of
symptoms and ages at diagnosis, with about a
third showing some level of joint pain, 'this
may be linked to another gene that is at present
unidentified'. He stated that he is not sure
why all people with the genetic pattern don’t
develop Haemochromatosis/iron overload or
symptoms. A research project in Cambridge is
looking at people’s whole gene profile and
Haemochromatosis may not be a single gene
condition, but rather a situation in which
collections of gene profiles in some individuals
might explain the variations noted.
(JS)
discussed
the validity of whole population screening but
questioned this in terms of its cost
effectiveness/possibility of succeeding in
its aims, 'only a small proportion will have
iron overload and an even smaller proportion
will have endgame damage' He suggested that it
might be a good idea if iron levels were checked
in people around the age of 50 in a similar way
to the way in which cholesterol is already
looked for. ´This would help to find not only
those with high iron levels but also those who
were deficient´.
B.
`Diagnosis
is not always welcome`:
(JS)
explained
that people may present with no symptoms and
they are sometime resistant to the knowledge
that they have an illness. He stated that this
process became even more pronounced with 1st
generation relatives who often want the
knowledge even less so. This can make (´cascade
screening´) of close relative difficult at
times. Despite that (JS) always gives out
letters to those diagnosed to be used to pass on
the message in the hope that people will see the
logic of getting tested and treated if
necessary.
In relation
to screening of young children (JS) asked
the question, ´was it harsh to screen them´? He
stated that indirect screening could be
established by screening the mother and, if she
is a carrier you have an idea about the children
and like wise, if she is not.
On women
(JS) explained that lower iron levels in
women, usually due to menstruation, do not
necessarily indicate that they do not have
Haemochromatosis.
Fundamentally, (JS) explained that a
successful process of screening combined with
effective treatment plans could make
Haemochromatosis an easily manageable illness
but that achieving this outcome was somewhat
more complex given the realities of cost,
identification of at risk groups and individuals
etc.
C.
´Treatment
is a pain but it works`:
(JS)
stated
that Haemochromatosis does at least have a
treatment that is relatively effective and that
venesection is usually efficient in taking down
levels of iron in a patient. ´It is very safe
and has, in fact, been used for centuries. If
you treat pre-cirrhosis people with effective
venesection, life span is the same as any
comparable age group. So it is important to do
it´, (Based on a study done in Germany).
D. ´Advice
from doctors is inconsistent´:
(JS)
highlighted the situation in which people with
Haemochromatosis, particularly those recently
diagnosed become confused by the language
surrounding the illness. He stated that the term
Haemochromatosis should be saved for people with
iron overload and organ damage and that he would
like to use the term, ´potential
Haemochromatosis` at stages prior to iron
overload.
(JS)
highlighted and confirmed the often noted and
not ideal
situation in which treatment protocols vary
between liver specialists, haematologists,
gastroenterologist and other areas of
specialism. His advice to patients was to take
things steady, keep venesections going overtime
and not just for a quick burst and he reminded
people that iron takes a long time to build up
and that they should, therefore, expect it to
take a while to reduce raised iron levels.
(JS) indicated that he teaches his patients
to understand what they need as a way of
empowering them. He also explained that this
logic had grown out of unsuccessful attempts to
train doctors and maintain their interest in
these matters. People were in complete
agreement with this outlook.
(JS)
produced
a patient record card that he had developed in
conjunction with the Haemochromatosis Society
which he uses with his patients and which is
available from Janet Fernau at the Society.
(JS)
also
discussed the variance in attitude to ferritin
levels between the North American outlook and
the view in the UK. He stated that in North
America the current view was that the level of
ferritin 30 was the target for those with
Haemochromatosis whereas in the UK the level of
between 50 to 250/300 is aimed for. (JS)
said that he generally aims for a ferritin level
of 100 with the patients he sees. He also said
it is important to keep a check on haemoglobin
levels following venesection treatment and that
some flexibility should be allowed for to
accommodate the fact that every case is
different.
Another
point that was made was that people can become
somewhat depressed when ferritin levels take a
long time to come down. (JS) produces a
graphic for his patients which encourages them
to keep a watch on their levels and helps them
see, in a graphic sense, the progress being
made. He highlighted that often during
treatment, levels can maintain at a particular
point for some time before beginning to reduce
but that after this barrier level was crossed
levels often reduced more rapidly.
Another
interesting point raised by (JS) was the
situation where often doctors react to signs of
anaemia by ceasing any treatments of venesection
altogether for a time. He sees it as far more
beneficial to reduce the amount of blood and,
therefore, iron taken per session but to
continue treatment sessions. This means that
the progressive nature of iron reduction can be
maintained while balancing effects of anaemia.
He stated that he preferred to maintain
treatments also to maintain consistency for the
patient and that this meant they did not cease
treatments altogether as sometimes happens
following situations like this.
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Dietary Changes:
I think it is fair to say that
Dr Shearman’s take on diet in relation to
Haemochromatosis was, everything in moderation.
On discussions of do’s and don’ts and trying to
manage iron through changes in diet
(JS)
stated that ´it isn’t worth it´, quoting the
futility of the US navy’s attempt to persuade
sailors to eat vegetables so as to gain
strength through gains
in iron, the affects being negligible. Of far
more relevance is the amount of iron in meat and
the negative affects of alcohol and yet (JS)
explained that even removing these totally
from your diet would have little impact on
levels of iron in the end when receiving
venesection treatment. `Becoming a vegetarian
doesn´t reduce much iron´, and to further debunk
wrongly held views he noted that ´Guinness is
not good for you as there is not much iron in
it´, but please don’t tell the brewery about
that, will you.
In answer to
a question about the retention of iron in the
liver through intake of vitamin C, (JS)
concurred with this process but stated that he
felt it was again negligible in terms of its
overall affect on those with Haemochromatosis
and that people should ´not worry about it´. ´Venesection
is the really powerful treatment`. He explained
that some patients make themselves quite ill by
making changes to their diet, based on perceived
logic of the types discussed above, by denying
themselves important nutrients that the body
needs to function.
In reply to
concerns of diabetes developing because of a
sweet tooth (JS) explained that he thinks
it unlikely that anyone gets diabetes just
because of iron overload/ Haemochromatosis and
that many lifestyle factors contribute to
development of diabetes so ´healthy eating is
always worth doing and not just for those with
Haemochromatosis. `People with Haemochromatosis
that do develop diabetes will suffer from
insulin resistant diabetes due to the part
played in insulin production by the liver`.
Discussion
took place around the subject of collation
therapy, (removal of iron by the use of drugs)
and the drugs Lansaprozole and Omeprazole were
specifically mentioned as drugs that people had
heard of and used for this purpose as well as
for other reasons but which still might help in
the reduction or maintenance of iron levels.
(JS) stated that he doesn’t think this
method really works and is certainly not as
effective as venesection. He also pointed out
the potential for side affects particularly with
long term use, such as the risk of food
poisoning because of the suppression of
essential stomach acids that would not be
present to break down food. (JS) also
pointed out the heightened risk of
osteoporosis/low magnesium levels from long-term
use.
For those
who wanted venesection record cards it was
suggested that they should contact Janet Fernau
at the Haemochromatosis Society.
We thanked
(JS) for his kindness in coming to share
his knowledge and for the expression of his
thoughts on Haemochromatosis and gave him a
round of applause for his time and a bottle of
wine as a token of our thanks.
(JS)
finally
offered us a really precious gift of general
technical guidance and support for the group. If
people have questions in the future the y can
ask them by funneling their questions via (KL)
who will forward it to (JS).
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