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Guidelines
A.
Population
All health care providers including hospitals, doctors, clinics, insurance
companies and managed care facilities should screen everyone over the
age of 18 years old, male and female, with a iron profile (see section
1.b ) every 1 to 2 years to measure their current iron storage status.
Children ages 2-18 years should be monitored every 2-3 years with an
iron profile if they have a diagnosed blood relative with hereditary
hemochromatosis/iron overload. It should be further noted that “no
physician should prescribe iron supplements or vitamins containing iron
or vitamin C supplements without first determining the iron storage status
of the patient, as otherwise, the physician may be put at risk for medical
negligence.” (Victor Herbert, MD JD)
B.
Proper tests
The
patient should
be told to abstain
from iron supplements
24 hours prior
to testing which
ideally should
be done in the
morning while
fasting.
2.
DIAGNOSIS
If
you find a percent
of saturation
greater than
40% and/or serum
ferritin greater
than 150 ng/ml
then your patient
may have hereditary
hemochromatosis/iron
overload and
the tests should
be repeated as
soon as possible.
The
following tests
should be also
be performed:
A.
Primary Test
In
all cases,
DNA for the
common hemochromatosis
mutation (HFE)
known as the
Cys282Y and
the His63G
on chromasome
6 should be
done for patients
with a percent
of saturation > 40%
and/or serum
ferritin >150
ng/ml.
This
test can be
performed using
a tissue sample
or blood sample.
It can be ordered
directly from
the laboratory
by the patient
who uses it
at home and
mails it back
to the lab
or performed
in the doctor’s
office. There
is a 24 hour
turnaround
on the results
which will
be faxed directly
to the doctor.
Once a case
of HH is diagnosed
in a family, “all
blood relatives
should be genotypically
and phenotypically
tested,” Victor
Herbert, MD
JD.
The
American Hemochromatosis
Society recommends:
Kimball
Genetics Lab
(CLIA)
1-800-320-1807
or outside of
the U.S.A.: 303-320-1807
Denver,
Colorado, U.S.A
B.
Liver Function
Tests (LFT)
All
patients suspected
of having HH
should have
LFT’s
performed including
ALT, AST, SGOT,
GGPT. If these
tests are significantly
elevated, a
liver biopsy
may be considered
to determine
degree of damage
to the liver.
Patients with
normal LFT’s
may proceed
to treatment
without a liver
biopsy which
should no longer
be used solely
to diagnose
clinical iron
overload.
LIVER
BIOPSY
A
liver biopsy
should be
considered
if any of
the following
factors exist:
-
Serum
ferritin > 1000
ng/ml and
the patient
is >30
years old
-
Any
liver function
test (LFT)
that is
significantly
elevated
-
Any
scans including
CT, MRI,
or ultra
sound that
show an
enlarged
liver or
any other
abnormalities
A
liver biopsy
should be stained
with prussian
blue for iron
and a hepatic
iron index
(HII) should
be calculated.
Therefore,
treatment
should begin
immediately
and not wait
until after
all liver
biopsy results
are complete.
If a patient
refuses the
liver biopsy,
or is unable
to have the
liver biopsy
performed,
treatment
should still
proceed promptly.
A
case example
when a liver
biopsy would
not be necessary:
A
25 year old
woman with
a percent
of saturation
of 85% and
a ferritin
of 235, normal
liver enzymes
and no symptoms.
In this case,
either the
DNA test
or quantitative
phlebotomy
(see section
3.A. )can
be used to
confirm the
diagnosis.
Note:
If the liver
biopsy shows
any sign
of fibrosis
or cirrhosis,
the patient
should be
monitored
frequently
for the rest
of his/her
life for
hepatocellular
carcinoma
with the
following
blood tests
and scans:
-
Biphasic
Helical
CAT Scan
(every
6 months)
-
Alphafeta
Protein
(every
6 months)
-
PIVKA-II
blood
test
(every
6 months)
This
test
can currently
be ordered
through
Esoterix
at 303-399-3336.
C.
Glucose
Since
diabetes
is a common
symptom of
advanced
HH, patients
should have
a base line
glucose check
to rule out
the advent
of diabetes.
D.
Hepatitis
Screening
All
hereditary
Hemochromatosis
patients
should be
screened
for hepatitis
as well as
wall hepatitis
patients
being screened
for HH. If
the HH patient
is found
to also have
Hepatitis
C, phlebotomy
treatment
should be
initiated
and iron
stores brought
to normal
before initiating
interferon
treatments
for hepatitis
C.
E.
EKG
A
baseline EKG
should be done
to rule out
heart damage
by iron overload.
3.
TREATMENT
Once
the diagnosis
of hereditary
Hemochromatosis/iron
overload has
been made by
any of the aforementioned
tests, the patient
should be aggressively
phlebotomized
by prescription
using the following
criteria until
serum ferritin
(storage iron)
is brought to
20 ng/ml or less.
The prescription
should read: “Phlebotomize
this patient
one to two times
per week as long
as hematocrit
remains >35%
and until serum
ferritin is lower
than 20. Diagnosis:
Hemochromatosis"
Once
the serum ferritin
is below 20 ng/ml,
the patient should
go on a maintenance
phlebotomy program,
usually three
to four times
annually, for
the rest of his/her
life. Clinicians
who do not have
experience with
hemochromatosis
diagnosis/treatment
should consult
a medical expert.
AHS can provide
such experts
for consultation.
Patients
with HH/iron
overload should
be warned not
to:
-
take
iron supplements
-
take
vitamin C supplements
-
consume
or touch raw
seafood/shellfish
-
drink
alcohol or
if no damage
at diagnosis,
to drink moderately
A.
QUANTITATIVE
PHLEBOTOMY
Another
method of diagnosing
clinical iron
overload is
to give the
patient a trial
period of weekly
phlebotomies,
usually running
for six weeks
using the prescription
shown above.
If the patient’s
hematocrit
continues to
rebound week
after week
remaining >35%,
the diagnosis
of clinical
iron overload
has been made.
4.
MAINTENANCE
Once
an iron overload/hemochromatosis
patient has been
de-ironed they
should have a
normal life span
as long as no
other complications
(cirrhosis of
the liver, cardiac
problems, diabetes)
were present
at time of diagnosis.
The patient should
keep serum ferritin
below 20ng/ml
for the rest
of his/her life.
The accepted
therapeutic phlebotomy
(TP) maintenance
regimen is 3
to 4 times per
year which may
vary from patient
to patient. Ferritin
levels should
be checked on
an annual basis.
PURPOSE
AND MISSION
STATEMENT OF
THE AHS GUIDELINES
The
purpose of our
current guidelines
is to further
educate the medical
community and
general public
about the most
common genetic
disease known
to medical science — HEREDITARY
HEMOCHROMATOSIS.
HH is contributing
to a significant
number of cases
of heart disease,
liver disease,
cancer, arthritis,
diabetes, impotence,
chronic fatigue,
and premature
and avoidable
deaths. HH/Iron
overload should
be considered
first as a possible
precursor to
these diseases.
Prevalence of
one in eight
as carriers and
one in 100-200
as double gene
cases illustrates
the imminent
need for more
public and physician
education about
iron overload/hemochromatosis.
Physicians who
are members of
the “American
Hemochromatosis
Society Expert
Physician Program” follow
these guidelines.
American
Hemochromatosis
Society, a 501
(c)(3) non-profit
organization
Member
of the Alliance
of Genetic Support
Groups
Member
of the International
Association of Hemochromatosis
Societies
"Prevention
thru genetic
testing"
Web
Page: www.americanhs.org
Office
email: mail@americanhs.org
PMB
416, 4044 W.
Lake Mary Blvd.,
Unit #104
Lake Mary, FL 32746-2012
Tel: 407-829-4488
Fax:
407-333-1284
AHS
Hemochromatosis
Hotline 1-888-655-IRON(4766)
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