Clear
Symptoms Of Iron Overload Overlooked
It
seems that no matter how many years of my life or how much of my own health
have been invested in hemochromatosis awareness, many doctors, including
specialists, are still not spotting the tell-tale signs. This is why I am
writing yet another article and I intend to include in it a link to an article
published some years ago.
‘Iron
Filings”
Many
years ago – it seems like a century ago although it was only in 1980 that I
established the Canadian Hemochromatosis A CRIPPLING DISEASE STILL TOO OFTEN
UNDIAGNOSED
Society
in Victoria, British Columbia – one of the first things I was determined to
do was to put out a newsletter as frequently as I was able, in order to keep
those already diagnosed, as well as their family members, up-to-date with new
developments. All were encouraged to submit their own stories, to be included
in this amateurish publication - laboriously typed out on my little Olivetti
portable - and I reckoned that Iron Filings - an intended pun provoked by my inventor
husband’s everlasting filing away at some new “gadget” in the garage - was an apt title for stories about a disease
caused by TOO MUCH IRON.
Nowadays
the Canadian Hemochromatosis Society, the head-office of which is located in Richmond, British Columbia, is able to produce a
really first-class publication – still called “Iron Filings” - and
the articles and stories are so riveting that I never discard a single copy.
Periodically (please excuse another pun!) I take a look a some of the older
publications, and it is the re-reading of a story on the front page of the
Spring 2010 issue that has prompted me to write this.
“Out
of The Blue,” a story submitted by a young man called Patrick, is well-written
and many of the details he includes are quite riveting - starting with the fact
that his experience with hereditary hemochromatosis began the month before his
33rd birthday (just about the age my daughter was when she phoned me to say,
“Mom, I think that I have this iron thing that Dad has.”… And
I replied: That’s nonsense! In the first place women are notoriously
iron-deficient; secondly it’s not hereditary, thirdly, it’s far too rare - and,
what’s more you are far too young!”)
In August 2009, despite the
fact that he, Patrick, was feeling generally healthy, he was declined extended
disability insurance as a result of some routine blood analysis completed by
an insurance company. Essentially, his
liver enzymes were "elevated."
He goes on to write: “My
liver enzymes elevated? It was a surprise for sure, so a trip to my general
physician ensued, resulting in numerous tests in an attempt to rule out any
major infectious diseases. In the end, his biggest concern was hepatitis A or
B., which didn't make sense to me, but was the most logical explanation for my
liver enzymes. He also lined me up for an abdominal ultrasound which I was able
to get in mid-October, and which produced more questions as it showed an enlarged
spleen and enlarged lymph nodes in my abdominal cavity. I soon had a referral
to a gastroenterologist, which took another six weeks, so there was more
waiting and wondering.
“Life went on as usual, but
I did stop drinking because we knew my liver was compromised in some way. ...
The gastroenterologist I saw at the end of November was straightforward. He
asked me about joint pain, ordered a few more the tests and then tested my ferritin.
This was the first time I had heard about ferritin.”
Patrick goes on to write
that his wife was away on a ‘work trip’ on the day his lab results arrived in
the mail and, as he puts it, his ferritin results came back ‘off the charts’
with the first number high in the 9000s. By the time she came home that night, he had spent some time with
"Dr. Google" on the Internet and realized the gravity of his situation,
and, when his wife came through the door, he said: “I think I know what I have.
It is called Hemochromatosis. (Homozygous for HH)[1] Because of
these enlarged nodes and the extremely high level of ferritin the specialist was
not convinced that it was just HH. He reckoned that the problem could also be leukemia
or lymphoma, so, before he knew it, Patrick was ordered to undergo an urgent CT
scan, and he was then left with a message of impending doom - as well as having to wait for the results of
genetic tests - right before the
Christmas holidays; results he would not receive until early 2010. Furthermore,
because no one in his family had ever been diagnosed with HH, at least as far
as he was aware , the doctors became even
more skeptical that this was his main problem.
“I received a positive genetic test for HH
(homozygous C282Y) in mid-January and was referred to a hematologist, who ruled
out the additional scare of lymphoma and got me started on a weekly phlebotomy
regime in February -
which will continue as long as my
hemoglobin stays reasonable and my ferritin levels are lowered to a target of
50.
“Even with my out-of-the –ordinary lab results, it still
took five months to get my diagnosis with HH. I am a young, healthy man with no
other medical problems. I did not have unusual abdominal pain or fatigue. Out
of all the symptoms that could be attributed to HH, I only ever experienced
joint pain in the thumb and forefinger of both my hands.[2]
However, I had gone to the doctor about this four years ago, which he and I
both chalked up to repetitive stress from daily computer work. The doctor
suggested I wear wrist guards, which I have been religiously wearing since and
have helped reduce my wrist and hand pain, but not eliminated it. My ferritin
level continues to be high (in the high 5000s) and I have a number of
appointments lined up with specialists (including an MRI scan and
echocardiogram) to help assess the extent of damage my iron overload has had on
my system.
The purpose of my story is that had I not had the test from
my insurance company, I am sure I would have suffered more severely from HH
within the next decade. I now encourage my friends and acquaintances to have
their ferritin tested by their doctors whether they have HH in their family or
not particularly if they have any of the following symptoms:
Transferrin saturation percentage (TSAT) is also an
important diagnostic that if elevated, is a good indicator that HH is present.
I’ve been told that I must be the quarterback of my own
health and stay on top of my treatment and conditions related to HH. I’ve
pushed to see not only a hematologist, but also other specialists like
cardiologists, gastroenterologists and so on because HH is a multi system
disorder especially depending
on the severity of its impact when diagnosed.
I remain hopeful that I will successfully work through my
treatment, lower my ferritin, manage any associated conditions and live my life
to the fullest, despite my HH. I wish the best to those of you similarly
affected with HH as well.
Medical research indicates
that end organ damage begins at a when serum ferritin is in excess of 1000ug/mL
Patrick
is now a member of the Canadian Hemochromatosis Society; and that
he
is an enthusiastic one is proved by his sharing this story!
Also see http://blogcritics.org/scitech/article/the-horror-of-hemochromatosis/
for more symptoms of this potentially fatal genetic disorder.
