Hemochromatosis
is the most common genetic disorder.
Another name for it is
Porphyria cutanea tarda.
It is the most common type of porphyria.
Prophyria cutanea tarda (PCT) is due to a defective enzyme
in the liver
(uroporphyrinogen decarboxylase)
involved in
synthesis of the red pigment in
blood cells (haem).
Approximately 1 in 200 to
300 humans have this disorder.
Most doctors still think it is a rare disorder.
But about 10% of
the population
carries the gene that causes
Iron Overload.
When someone inherits
this gene from both
parents,
he or she may
absorb too much iron
from their normal diet.
This iron will be stored
in the
liver
and several other
tissues in the body
and can cause a great
number
of symptoms.
These
symptoms, as a cause of Hemochromatosis,
can be found in babies and small children,
but it is most
common above the age of 40.
WATCH FOR:
CHRONIC FATIGUE
|
INCREASED SUSCEPTIBILITY FOR INFECTIONS
|
LIVER FUNCTION ABNORMALITIES
|
ARTHRITIS
|
DIABETES
|
LOSS OF LIBIDO AND IMPOTENCE
|
INFERTILITY
|
SWOLLEN STOMACH
|
HEART COMPLAINTS
|
SHORTNESS OF BREATH
|
SKIN PIGMENTATION
(bronze or grey coloured skin)
|
LOSS OF WEIGHT
|
DECREASE OF BODY HAIR
|
EARLY MENOPAUSE
|
PORPHYRIA CUTANEA TARDA
|
Every doctor should consider Hemochromatosis in his diagnose
when there is no direct cause found
for one of the above complaints.
Striking is that not all of these complaints are mentioned
in every publication.
This is probably
because
of the great variety of complaints caused
by the excess iron.
Chronic fatigue is most often
mentioned,
and one article is
entirely devoted to this problem.
This article states for example:
"Fatigue is the most commonest symptom
present
at diagnosis
regardless of whether cirrhosis is
present or not."
Although also a symptom of liver failure and cirrhosis,
fatigue is often a
prominent
symptom of precirrhotic
haemochromatosis with normal liver functions,
suggesting that it is
iron
overload per se that causes this symptom".
A number of studies have examined the
usefulness of a
variety of investigations
in the assessment of patients
presenting with
chronic fatigue in general practice.
In general such investigations have not proved useful as
only a low yield of abnormal results has been found.
However, such studies have not
included screening tests
for
haemochromatosis and sometimes even liver function tests are
not included".
Patient's Can Also Include The Following Symptoms
When Checking For Hemochromatosis
SYMPTOMS INCLUDE
|
DIARRHOEA |
CONSTIPATION
|
DEPRESSION
|
CRAMPS |
HAIR LOSS |
IRRITABILITY |
LESS APPETITE |
FAINTING
|
CONFUSION |
IMMUNE-DISORDERS |
LESS CONCENTRATION |
SLEEPING PROBLEMS |
FOOD INTOLERANCE |
CHANGE IN BODY TEMP'S |
There are doctors who state that patients with a diagnosis of Fibromyalgia,
CFIDS or Irritable
Bowel Syndrome (IBS) have a greatly increased
chance
of having Hemochromatosis.
This
sound logical, but until now there has been nothing
published about this in the scientific magazines.
A first diagnosis can be made most cost-effectively by measuring the
Transferrin Saturation %
and the serum ferritin
(by taking some blood from the patient).
When the T.S. is above
50% (man); 60% (woman)
and/or ferritin is
above 200,
there should be
further examination to
establish the diagnosis.
With a DNA-test (cheapest is $78) the diagnosis is confirmed
in about
85% off all cases.
A liver biopsy, until recently
"the gold standard" ,
is not necessary for the
diagnosis of hemochromatosis
but your doctor can ask for this to establish the diagnosis
with
more precision.
When there is doubt about the diagnosis or the biopsy is refused,
for understandable
reasons, a trial of phlebotomy
can establish the final diagnosis.
A liverbiopsy however
could be useful to estimate the damage on the liver.
Also an eventual anemia (shortage of iron) should be tracked this way.
Measuring of hemoglobin
and/or hematocrit does not give a certain
diagnosis and they are therefore of no use for the diagnosis
of this disorder!
Be sure to know your own exact T.S.% and serum ferritin level.
As mentioned
before, doctors underestimate the problem
of iron overload
and use too high serum values
for their
"normal range"
and/or do not respond when they are elevated.
This is concerning as it is essential to intervene as quickly as possible.
For this reason, several
investigations and (medical-) organizations
dispute for the
preventive screening of the whole
population on Hemochromatosis.
According to them this should be done with everyone above the
age of 20 years.
Despite overwhelming evidence supporting the necessity of screening,
several investigators and mainstream medical organizations still dispute
the benefits of preventive
screening.
There are some laboratoties where the T.S. is always measured.
They find 80% of the
patients before any damage has occured.
Most people still think that when you are tired
you should take iron
supplements.
After what you
have read here, it should be clear
that
iron supplements should not be taken before one is thoroughly
examined
including the above mentioned tests.
This is not always done and can have possible negative
consequences.
If you used iron-supplements (in great quantities?) in the past,
without being
thoroughly examined,
you should ask for these tests.
The treatment of Hemochromatosis is simple and
cheap, with namely bloodletting.
With this method
excess iron is removed easily and quickly
in large amounts in the most efficient way.
When
bloodletting is not possible there are alternative options.
After treatment, most complaints usually
disappear.
If you want more information on hemochromatosis, you can contact:
American Hemochromatosis Society, Inc.
777 E. Atlantic Avenue, Z-363
Delray Beach, Florida USA 33483-5352
Email: [email protected]
http://www.americanhs.org
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