Mary Boudreau Conover BSNed
Dedicated to John, my brother, who
was misdiagnosed for decades and then diagnosed too late to recover
from multiple organ damage. He lives with the ravages of this easily
controlled disease. Listen up, and take
charge of your health.
FORWARD
Iron overload disease weighs heavy with
the need for as many as possible to know. Most of you at CrossFit
are young; certainly from my elderly perspective that includes all of
you! The men among us won’t need to be concerned with this inherited
mutated gene until they are 40 and the females until after menopause,
although in some, earlier than that. This is important enough,
common enough, and devastating enough for you to understand it now for
yourself and your loved ones. Iron overload is a destructive disease
– a sleeper that slowly compromises internal organs and joints, seducing
one into thinking ”it’s just age catching up” -- until years later
it has taken over, trashing hopes, dreams and goals; family life, love-life
and love of life, and finally – life itself. All for lack of
two simple diagnostic blood tests! How incredibly unacceptable!
CrossFit can build physical strength,
help to keep us focused and healthy, strengthen bones, and for some
it has been shown to restore and maintain blood pressure and cholesterol
levels within normal range, but no amount of WODs can prevent the progress
of iron overload disease. This presentation would not even be
necessary if there were no treatment – no way to control it -- there
would be no point. So here we go – all you never thought you
wanted to know about
IRON OVERLOAD DISEASE -- HE-MO-CHRO-MA-TOSIS
The normal. Iron in our
diet is essential to health. Most of us absorb about 10 percent
of the iron in the foods we eat. When our iron stores are adequate,
the body protects us from iron overload by reducing the amount of iron
absorbed by the intestines. However, once absorbed, the body cannot
rid itself of excess iron except through bleeding or pregnancy.
Iron overload. An inherited
genetic mutation, called Iron Overload Disease, or Hemochromatosis,
causes loss of the body’s rigorous control over intestinal absorption
of unneeded iron, allowing it to continue to enter the blood stream
from the intestines unabated. Over the years, 5 to 20 times as
much iron as normal may be stored, causing damage to major organs such
as the liver, heart, pituitary gland, thyroid gland, pancreas, joints,
and the retina (macular degeneration). In the retina, excess
iron can cause retinal toxicity through the generation of oxygen free
radicals. Iron overload in the brain is seen in people
with Alzheimer's disease, early onset Parkinson's disease, epilepsy,
multiple sclerosis, and Huntington's disease.
Prevalence. Hemochromatosis
is the most common genetic disorder in the western world. In the
United States, Europe, Australia, New Zealand and other western countries
there is approximately 1 case in 300 persons, mostly of northern European
origin (British, Irish, Dutch, German, French.)
Age at first manifestation. The
first sign of hemochromatosis may go unnoticed for decades because it
requires a blood test showing high iron blood levels that show up in
men over 40 and in women after menopause. Later, when physical
symptoms of organ or joint damage begin, even then, you will be lucky
indeed to have a physician who orders an iron panel to screen for hemochromatosis.
File this for later reference and never be afraid to bring up the possibility
of iron overload; insist on the test.
My brother, to whom this article is
dedicated, was diagnosed by accident. He had an uncontrollable
nosebleed that sent him to the ER. The physician stopped the nosebleed
and sent blood to the lab asking for an iron panel because of concern
for the blood loss and low levels of iron. That was his first
test ever for iron levels. They sent him home with a supply
of iron tablets to take every day. The next day they called and
told him to stop taking the iron. His serum iron levels were off
the charts. He had been accumulating iron with no means of off-loading
for years. It was too late to repair the damage to his body.
After decades of concatenating symptoms and seeing many physicians,
any one of whom could have ordered a lab test for iron levels, he was
finally diagnosed by accident. A scenario that is very difficult
to live with. When caught early and treated effectively, damaged organs
can heal, especially the liver, which is amazingly regenerative.
Early subjective signs and symptoms.
This disease is difficult to recognize by its physical signs and symptoms
because of the number of organs and functions involved.
Early signs and symptoms include:
- Joint pain (44%), including
hand, wrist, knees, feet, back and neck
- Chronic Fatigue (74%)
- Impotence (45%)
- Lack of normal menstruation
- Abdominal pain
- High blood sugar levels
- Low thyroid function (hypothyroidism)
Blood tests.
Hemochromatosis is diagnosed at any stage with two fasting blood tests.
They are:
- Serum transferrin saturation.
This test measures the amount of iron bound to a protein (transferrin)
that carries iron in your blood. Transferrin saturation values greater
than 45 percent are considered too high.
- Serum ferritin. This
test measures the amount of iron stored in your body. The Iron
Disorders Institute lists the normal range of Ferritin for adult males
as up to 300 ng/mL and for women up to 200 ng/mL.
Note. It is likely that
you will not be told to fast for the tests. Remember to do so.
Additionally, for one week prior to the blood test, you should not be
taking iron supplements or vitamin C, which enhances intestinal absorption
of iron.
Treatment. This is a manageable
condition. Treatment involves off-loading the iron by giving blood.
If your iron panel shows elevated Ferritin and Transferrin Saturation
%, your physician will start a regimen of treatment. There are
informative treatment and maintenance protocols on www.irondisorders.org or www.ironoverload.org.
When to get a DNA test.
DNA (deoxyribonucleic acid) codes genetic information for identification
and for the transmission of diseases. If there is a family history
of hemochromatosis, get a DNA test even if you are too young to have
symptoms. If you have inherited this gene mutation, you can then
be on the alert for an increase in iron levels above normal and start
treatment before it becomes a burden. A significant number of
people with the genetic mutation for hemochromatosis do not have elevated
blood iron levels. They are not symptomatic, but they are carriers,
therefore their children and grandchildren should be alerted.
For the details of the genetics of inheritance, www.irondisorders.org has excellent charts.
mc: April 20, 2009
References
Sfeir HE, Klachko DM: Hemochromatosis:
Hemochromatosis, eMedicine Specialties, July 17, 2008.
Mayo Clinic Staff. Hemochromatosis, Sept
2008. www.mayoclinic.com
He X, Hahn P, Iacovelli J, et: Iron homeostasis
and toxicity in retinal degeneration. Prog Retin Eye Res. 2007
Nov;26(6):649-73. F.M. Kirby Center for Molecular Ophthalmology, Scheie
EyeInstitute, 305 Stellar-Chance Labs, 422 Curie Boulevard, Philadelphia,
PA 19104, USA.
Loh A, Hadziahmetovic M, Dunaief JL:
Iron homeostasis and eye disease. Biochim Biophys Acta. 2008
Nov 14; [Epub ahead of print]
Wong RW, Richa DC, Hahn P, et al: Iron
toxicity as a potential factor in AMD. Retina. 2007 Oct;27(8):997-1003.
F. M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute,
University of Pennsylvania, Philadelphia, USA.
Olivia ready to rock.
Pat showing us a dog squat.
Dave keeping it cool.
Phillip working his deadlift.
Alex getting ready.
