We're going to our second metabolic
disease of the liver:
And this is Wilson's disease.
As soon as you hear Wilson's, close your
eyes, your telling me what element?
Copper. Copper. Copper. That
is where you begin.
Hemochromatosis, what is your element?
Iron. Iron. Iron Pathology.
Wilson – the copper is causing damage,
once again from head and
down to you liver.
If copper accumulates in the basal
ganglia, what does it look like?
And what's your walk? Shuffling gait.
What about your flexion of the elbow?
What is all this?
This is a sign of often awful
lot like your Parkinson's
But it is not Parkinson's
It is Parkinson-like right?
Be careful, so the copper here
is accumulating at the basal ganglia
in your patient of Parkinsonism.
Next, I'll show you the iris;
the copper accumulating
in the iris.
That is know as Kayser-Fleischer ring.
What's the topic here?
The copper accumulating in your liver’s
causing death to your liver.
Let's talk about pathogenesis,
Autosomal recessive; excessive
accumulation of what kind of copper?
What do you mean what kind
of copper Dr. Raj? Copper is copper. No.
In the body,
they're either bound or free.
Which faction of copper is elevated?
What is this copper accumulating on the basal ganglia,
and the iris,
and the liver and so forth?
Free copper. Why?
The liver is missing
the binding protein for copper.
Do you remember
the name of that is?
We will see.
Presents under the age of 40,
I know you are.
But let's just make sure you know,
we have the full picture first.
Age, about 40, young, hemolytic anemia,
jaundice, elevated ALT,
or fulminant liver,
There you have it,
Free copper accumulating
in different places, neurologic,
I talked about Parkinson-like
liver disease unfortunately,
death to the liver
Might have issues with hemolytic anemia
and jaundice as well
I show you a picture of Kayser-Fleischer
In which, you have free copper
accumulating in the iris.
Nearly 100% sensitive in present
of neurologic symptom.
see patient has mass aphases,
And you take a look at the iris,
and you find Kayser-Fleischer.
for diagnosis of Wilson’s.
Okay just before we moved one though,
I know it's killing you.
In terms of what this being deficient from the liver
in Wilson's disease,
What does copper bind to?
That's your pathology in
Let's take a look.
In the iris,
the areas that you are seeing that are brown,
are the areas and in the iris
that is accumulation of copper-
This patient had
Parkinson's -like symptoms.
No doubt, this patient had Wilson’s.
When kind of free copper did you find
in the serum?
Increased. Increased. Increased.
I'm going to walk you through
Step-by-step by step
of the labs that are important for you
But your diagnosis would come mostly
just by paying attention to your patient
Let’s now walk you through
your laboratory tests.
Pathogenesis and diagnosis
of Wilson's disease
If the liver fails
to synthesize Ceruloplasmine,
Would you be able to tell me
The concept of total?
Total means free plus bound.
What does Ceruloplasmine
mean to you? Bound.
What faction or component of your total
makes mostly your total?
Free or the bound?
The bound, the bound, the bound,
determines the total.
Okay, with all that in mind,
that we’ve walked through
plenty of times
If you are low in Ceruloplasmine
and you know that it is bound form,
Then what are your bound levels
is in Wilson’s?
Bound copper is decreased. Clear?
If your bound is decreased
and you know that it
is the major constituent,
Of total, then what's your total?
Decreased. Keep going.
If you're bound is decreased and your total is decreased,
what has to be elevated? The free.
So Doctor why is the total increased
if the free is total?
I just told you,
that if thinking total,
the boundaries the major constituent.
So, you will have increase
in free, no doubt.
That free copper then accumulates
like and what we have talked
so therefore Parkinson -like
Here, obviously there's going to be
liver damage and then where will you
find this free copper?
In the urine.
Excretion in the urine; free copper.
Liver biopsy with high free
What about your ceruloplasmine? Low.
What about the bound? Low.
What about the total? Low.
Management. What do you want to do?
Penicillamine is the drug
that you should be thinking.
It is a chelator.
You need to remove the copper.
What were you doing?
By week by week phlebotomy, phlebotomy,
so that you can then remove the iron.
Zinc is used for maintenance.
Worst case scenario:
once the liver has been dead, unfortunately,
One would think that the number
of times you've see liver transplantation,
That's it's easy to find a liver,
you know that's not true.
All siblings should be screened
because this is a genetic issue.