Autosomal recessive; increased intestinal
is the pathogenesis
for hereditary hemochromatosis
affects middle aged men
with the bronzing.
With that basically, means this individual,
take a look at your patient,
and you say, my goodness!
You spent a lot of time
on the tanning salon didn't you?
Actually doc, I never did.
I actually never come out of my room
I had this amazing Playstation.
So, therefore you should never
come out of the room but you look bronze
and there is a history
in which you start
seeing damage to the liver.
Oh, boy! You see hyperglycemia.
There is no history of transfusion ever
in this patient.
You're thinking about a Hereditary
You talked about this on
hematology as well.
Where our topics there included HFE
FE (iron) and then also our topic would
hepcidine and feraportin.
Big time for your boards, the understanding
of this disease
is showing up on your boards.
We'll talk further about hemacromatosis
And I'll walk you through real quick once again,
hereditary and primary.
Under hereditary liver disease,
let's say that
it is being caused by hemochromatosis.
Here, you expect to find High ferritin.
iron saturation with iron overload,
we've talked about this
in hematology, hence
I'm not going to great detail.
Close your eyes.
Let me walk you through this.
You are reabsorbing quite a bit of iron
from your intestines.
the hepcidin levels will be low.
Therefore, there is nothing stopping
reabsorption of the iron from
There is increase activity
which is then bringing all this iron
from the intestine into circulation.
Welcome to hereditary hemochromatosis.
Now, give me the lab tests
that you are going to find.
What's the first thing that
you are going to do?
Once iron comes out in the serum,
where is it going to be stored?
ought to be high.
But the third thing that you are going
to look for.
If your Ferritin levels are high,
will be low.
And tell me about saturation.
Increased iron saturation.
If you aren't clear about
what you did
with iron studies,
I highly recommend that you go back to
obviously, pathology, and take a look
at our iron studies in great detail.
Now, you need to start putting
This is the example of that.
You do want to know about C282Y.
And something that we talked
about earlier with HFE.
If there's anything you would want to
take out of this at this point,
that is tested is the C282Y.
If you remember H63D, that is on your
that when C282Y becomes important.
So, what and how do you manage
because of all that iron,
that is hereditary, inherited.
This is not due to transfusion, right?
You need to do a phlebotomy.
You have to.
well, think about all the different organs
that are damaged
Remember in cardiology?
we talked about hemachromatosis?
If the iron accumulates on your heart,
it may result in two cardiomyopathies.
It will either be
or dilated cardiomyopathy
and most likely,
That is what your patient
is going to die of right?
If these iron
accumulates on the pancreas.
Dead is the pancreas,
Dead is insulin,
thus you'll have hypoglycemia.
And the iron accumulates
on the skin.
What color is this going
to give your patient?
Hence, we call this bronze
Phlebotomy obviously is imperative.
And, why are we discussing
What if the iron accumulates on
Dead is the liver.
Welcome to hereditary
issues of liver disease, right?
Quickly, may I ask you.
You are doing H&E stain for iron.
What color is that?
Don't just jump to blue
and I talked to you about this please.
Because on your boards they
might give you a picture of iron,
and I've showed you one.
In hematology, that iron in hematology
Once you suspect hemachromatosis
what is the stain you are going to use?
And then the iron appears in what color?
Phlebotomy does not reverse cirrhosis
or hypogonadism or arthropathy, it does not.
So, if the disease has kicked in and
iron accumulates on the liver, Bam! Dead!
Cirrhosis. If the iron accumulates on
let's say it's a male,
the testes are gone.
That is hypogonadism.
It won't reverse that.
you'd able to then,
prevent further damage
taking place up and down the body.
for advanced disease.
Nothing that you can do about that
once your liver is dead.
There is an increased risk for
hepato cellular carcinoma (HCC)
Thus, screening for it
with alpha fetoprotein
being elevated is important.
And always check for...remember, this is
Your next step of management, you've
ruled out transfusion.
Who is your patient that suffers from
secondary hema chromatosis most likely?
Sever anemia such as,
Beta Thalassemia major.
And with all that transfusion
that is taking place from day one,
that is secondary hematochromatosis
so that is ruled out.
Now, it is hereditary.
What is your next step?
Is there family history
of such things taking place?
Did your mother perhaps die
of heart disease
or having hyperglycemia.
and so and so forth.
Management is important.