The good news about hemochromatosis is that it has the
potential to save the lives of others. The bad news is
that the genetic blood disorder in which the body absorbs
too much iron leads to a host of potential health problems
ranging from impotence to diabetes mellitus to cirrhosis
of the liver. Fortunately, if the patient's hemochromatosis
is caught early enough it's quite simple to treat the
disorder — a blood draw is usually all it takes to
get a patient's iron level down to an acceptable level.
But sadly, this iron-rich bloodletting routine usually
has to be kept up periodically for the rest of a patient's
life. In the rare cases where readings show that an unsafe
amount of blood would need to be drawn to get iron levels
down, docs must turn to deferoxamine injections which
bind to iron in patients' blood — next stop the kidneys
—then finally the iron-laced deferoxamine gets tinkled
out.
Hemochromatosis is sometimes called
"The Bronze Disease" due to the permanent tan that develops
in untreated cases. One of the first detectable signs
of the disorder is joint pain or arthritis in the knuckles
of the index and middle fingers.
Unfortunately there's still no
simple inexpensive screening test for the disorder.
An accurate but costly genetic test does exist and it's
a good idea to run it on folks with a family history
or if you suspect it in a patient with one or more of
the following symptoms: high liver enzymes, joint disease,
severe fatigue, heart disease, sexual dysfunction or
diabetes.
WHAT
CAUSES IT?
Until quite recently, hemochromatosis was thought to
be very rare, but now it's believed that about one in
every 250 Caucasians has the disorder and that between
10-15% of the population carries the gene responsible.
It is much less common among non-Caucasians. A groundbreaking
paper on the cause of hemochromatosis was published
in March in the journal Cell Metabolism. The
investigators, based at the Children's Hospital Boston
and Harvard Medical School, were the first to find solid
evidence that the protein ferroportin is the culprit
behind the disorder. Future treatments will likely use
drugs that inhibit ferroportin
— but what of the here and now?
DRAWING
TO A CURE
Today the best and simplest way to treat hemochromatosis
remains the phlebotomy, the drawing of blood. This can
be disconcerting to a patient. Mike, an IT professional
from Quebec who suffers from the disease, says "My initial
reaction was that the treatment was something from the
Dark Ages." It's believed to be widely under-diagnosed
and Mike, whose wife is a family physician, is a case
study in how difficult it can be to pinpoint the hodgepodge
of symptoms. When he was finally diagnosed he felt relieved.
"My symptoms had my doctor looking for something much
worse," he says "and the diagnosis made sense out of
a lot of vague symptoms I'd had all my adult life."
SANGUINARY
SYNERGY
The blood that's drawn from patients with hemochromatosis
is usually perfectly good and suitable for use in other
patients but until recently it's been mostly just thrown
away. Since 2001 the Canadian Hemochromatosis Society
and Canadian Blood Services (CBS) have been trying to
do something about this. Together the two organizations
launched an appeal for hemochromatosis patients to give
blood at a CBS site every 56 days. CBS CEO Dr Graham
Sher says "By donating their blood at Canadian Blood
Services, a person with hemochromatosis will be helping
to save the lives of up to four people."
LIVING
WITH IT
While phlebotomies aren't the most invasive treatment
imaginable they still can be quite a trial on sufferers.
"...treatments and tests do eat into my time," says
Mike. "Also, one nurse in the clinic I go to is absolutely
useless for phlebotomies, she can never hit a vein on
first try, thankfully the appointment staff are aware
of this and help me to schedule appointments for when
she's not on duty."
The Canadian Hemochromatosis Society
is currently running an awareness drive. They're offering
glow-in-the-dark hemochromatosis wristbands for $7.50.
For more information please visit their website at www.cdnhemochromatosis.ca.
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