So the signs and symptoms of hemophilia are related
to the excessive bleeding and the easy bruising.
The extent depends on the
severity of the hemophilia
and patients can have
internal and external bleeding.
Let's talk about external bleeding.
This can be inside the mouth,
this can be from toothbrushing.
These patients sometimes present
with ongoing epistaxis or a nose bleed.
Remember, a normal nosebleed last between 10 and 20
minutes and sometimes these patients will bleed for hours
There is heavy bleeding from a minor cut.
Internal bleeding - this can be a bit sneaky.
The patients can have hematuria and this
can be gross on inspection or can be microscopic.
The patient can have blood in their stool - that's
hematochezia, and they may show up with bruising inside.
Now the joints - this can bleed into the knees
and elbows and we'll cover this and just a minute.
Let's talk about bleeding in the brain.
This is a very serious complication of hemophilia,
it can happen after a simple bump on the head
or a more serious injury.
The signs and symptoms include
a long-lasting painful headache,
the patient may have some
neck pain and stiffness,
they may have repeated vomiting because remember
that 5-HT3 vomiting center is found in the brain,
excessive sleepiness or changes in behavior,
sudden weakness or clumsiness of the arms
or legs or maybe they'll have problems walking,
and your patient may develop seizures.
Now let's talk about bleeding in the joints.
Bleeding in the knees, elbows and other joints is a
common form of internal bleeding in people have hemophilia.
This bleeding can occur without
obvious injury so it's spontaneous.
At first the bleeding causes a tightness in the joint
with no real pain or any visible sign of bleeding
and then the joints gonna become
swollen, hot to the touch and painful to bend.
Swelling continues as the bleeding continues and
eventually, the movement in the joint is temporarily lost.
They will lose their range of motion.
Pain can be severe at this point and joint
bleeding that isn't treated can damage the joint.
How do we diagnose hemophilia?
Well first, we'll obtain a medical history.
There are some screening tests that can
be done in these include clotting factors.
And if there is a family history, the baby can be tested
immediately after birth by testing their cord blood.
If there's no family history, it raises the clinical
concern if there's prolonged bleeding after a heel stick
which we do on newborns for
newborns screen, or after a circumcision.
So labs that we use to
evaluate, we do a CBC.
This includes a red blood cell count, a white blood
cell count including the differential, a platelet count,
The reticulocyte distribution width, a
hematocrit level and the hemoglobin.
Now it's good to remember the CBC is
usually normal in patients with hemophilia.
Let's take a look at the clotting studies.
Next we can check clotting tests, the
first is a PTT - partial thromboplastin time,
you might see APTT written as well
and this is, how long does it take to clot?
This is going to measure
your factors VIII, IX, XI and XII.
Another is the PT or the prothrombin time and
this is another time, how long it takes to clot.
This measures factors I, II, V,VII and X.
Finally we'll look at the fibrinogen and
that's gonna be a measure of the Factor I.