Let's move on to our next case.
A 45-year-old man with recently
diagnosed type 2 diabetes
presents to clinic with fatigue,
weakness and arthralgias
affecting both his hands
for the past 6 months.
He has also noticed that his skin is darkening,
although he has not had excess sun exposure.
He went to urgent care one month ago with
the same symptoms and had lab studies
that incidentally showed a severely
elevated iron level, high ferritin
and elevated transferrin saturation.
An abdominal ultrasound shows
hepatomegaly but no cirrhosis.
What is the best recommended
treatment for his condition?
So, he has a recent diagnosis
of type 2 diabetes.
He has some vague symptoms of
fatigue, weakness and some joint pain
as well as changes in his skin
that suggest a systemic disorder
And his labs are concerning for iron overload
with his high iron level and high ferritin.
So, let's talk a bit about
This is a rare disease
but is commonly tested.
It is autosomal recessive in its inheritance
and it is from excess iron absorption
which leads to iron overload and deposition
in various tissues including the liver.
The diagnosis is made by looking
for characteristic symptoms.
Finding labs consistent with
iron overload -
so high serum iron, ferritin
and transferrin saturation.
And the gold standard for diagnosis is
genetic testing for this particular mutation
that we know is associated with
The treatment is with
phlebotomy for iron overload.
So the clinical features of
this disease are quite broad.
We can think about it anatomically.
So first, if iron deposition occurs
in the brain or the pituitary gland,
patients may develop chronic
fatigue and hypopituitarism.
Of course it often affects the liver
leading to an enlarged liver or cirrhosis
and eventually the potential
for hepatocellular carcinoma.
Patients may also complain of dry skin and skin
that is darkening in color or melanoderma.
When iron infiltrates into the heart tissues, this
can lead to cardiac arrhythmias and heart failure.
When deposition occurs in the pancreas,
patients may develop new diabetes.
They may also have nail changes with white nails
or flat nails otherwise known as koilonychia
and they may also develop
joint pain and osteoporosis.
So putting this all together, if you're encountered with a
patient who has recently diagnosed with type 2 diabetes,
has some form of liver disease and is now finding
that their skin is turning bronze color or darkening,
then you should think about
The diagnosis should be done early to
avoid any of the end-organ complications.
You should also offer genetic
counseling for any patients
and their families if you
suspect this diagnosis.
And one more quick high-yield point is
that any patients with this condition
should be counseled to avoid eating
raw seafood or undercooked pork
because in states of iron overload, they have
a higher incidence of particular infections
with vibrio and yersinia so they
should avoid these types of foods.
So now we can return to our case.
A 45-year-old man with recently
diagnosed type 2 diabetes,
he has vague symptoms of
some type of systemic disorder.
His labs show iron overload.
So now putting it all together, his
constellation of symptoms and his lab findings
should make you consider
So the best recommended treatment for
his condition is periodic phlebotomy.
Note also that at this point,
he does not yet have cirrhosis
but he has other signs of end
organ damage with his diabetes,
his melanoderma or skin darkening
and his joint pain or arthralgias.
So you should treat at this point.
Thank you very much.