00:01
Now let’s talk about Fanconi
anemia, this is a rare genetic disease
resulting in an impaired
response to DNA damage.
00:07
Fanconi anemia occurs in
about 1 per 130,000 births
with a higher frequency in the Ashkenazi Jewish
population in Israel and Afrikaners in South Africa.
00:18
What are the hallmarks?
Well the first is characterized
by bone marrow failure.
00:22
This is the inability to produce new cells
and this usually develops by the age of 40.
00:27
Patients will often develop acute
myelogenous leukemia or AML.
00:31
They will also have solid tumor development and
there are other congenital abnormalities including
a short stature, abnormalities of the skin, arms, head,
eyes, kidneys, ears and certain developmental disabilities.
00:46
In the year 2000, the life expectancy of a
patient with Fanconi anemia was 30 years old.
00:51
Fanconi anemia is most often inherited
in an autosomal recessive pattern
which means both copies of the gene have to
have the mutations for the disease to be present.
01:01
If a patient has only one mutated
gene, they are considered carriers
and they typically do not show any
signs and symptoms of this condition.
01:08
As you can see here,
both parents are carriers.
01:11
With each pregnancy, the odds they will have an
affected child, so with both mutated genes is 25%.
01:18
and the odds of having a child who receives
1 mutated gene and as a carrier is 50%
and the odds of having a completely
unaffected child without any gene mutations is 25%.
01:30
Remember these odds reset with each
pregnancy and each child has the same odds
regardless of the status of their siblings.
01:37
What are the signs of
symptoms of Fanconi anemia?
Well your patient may have petechiae and
remember these are the small pinpoint hemorrhages
usually smaller than 2 millimeters.
01:46
Your patient may be pale and this is
due to the decrease in red blood cells.
01:51
Same reason, your patient will have fatigue.
01:53
Your patient can get frequent infections and this
is because they have a suppressed immune system
and decreased white blood cells
They may be born with abnormal
thumbs and absent radiii in their forearms.
02:04
These patients will have a short stature
and can have strabismus in their eyes.
02:10
They may have low set ears and
deafness, and hypopigmentation of the skin.
02:15
Patients can also have a
hyperpigmented cafe-au-lait spot.
02:20
They may have abnormal facial
features and abnormal kidneys.
02:24
So how do we treat Fanconi anemia?
Well the first-line therapy is with
androgens and hematopoeitic growth factors
but these are only effective
about 50 to 75% of the time.
02:35
A more permanent cure is a hematopoeitic stem
cell transplant but this is a high-risk procedure
that comes with its own
set of potential complications.