- Scleroderma is diagnosed based
on a combination of factors.
It's definitely not just a positive blood test.
It involves the clinical features
that support the diagnosis.
Many patients come in as a referral to our center
because they have a positive blood test
known as the ANA.
And a positive ANA is also known as a
positive anti-nuclear antibody.
That is a marker that can be detected in the blood
that occurs and is found in many patients
with autoimmune disease.
Now there are several subtypes of this marker
that are more specific for scleroderma.
Some of those that are more commonly tested include:
the anti topoisomerase 1 antibody
which is also known as the scleroderma 70 antibody;
anticentromere antibody and anti RNA pol3 antibody.
It's often a question of referral
because many patients come with a positive test,
and may not have signs of clinical disease.
If they don't and they have a positive test alone,
we may monitor them over time,
but it doesn't necessarily mean that they have the disease.
Now if a patient comes with clinical symptoms
and has one of these antibodies that are positive,
it can be incredibly helpful
in determining what type of scleroderma
they'll potentially develop.
Meaning that patients with certain antibodies
are more likely to develop specific organ complication.
When a patient comes into my office for a clinic visit,
at the time of the exam I'll look for several things.
So starting with the head, patients may have
skin thickening or some swelling around the eyes
which can occur, and tightening of the oral aperture
or opening of the mouth.
Patients may also have loss of skin pigmentation
at the hair line, and they may notice
some changes in their facial appearance.
Again, this is not present in everybody.
Other findings on the face may include
little red spots called telangiectasias,
and are not painful, are not raised,
but when compressed with your finger
they blanch or go away and then they return
as the capillaries or post capillary venules
on the face refill.
On the chest, we also may see those red dots
or telangiectasias.
Patients may have abnormal heart sounds,
suggestive of something such as pulmonary hypertension
which can present with a heave or a loud P2
on the cardiac exam.
They may have dry crackles in the lungs,
suggestive of pulmonary fibrosis,
and they may have an elevated jugular venous pressure
which can also be associated with pulmonary hypertension.
In addition to that patients can have contractures,
this is almost essentially only seen in the
diffuse cutaneous patient population
where they actually have trouble moving their joints.
So patients may have trouble raising their arms
out to the side, raising them above their head,
and they may have something called tendon friction rubs,
which almost feel like a creaking,
like a Tinman would make.
It's felt on exam as a rub.
Patients may also have a distended abdomen
or decreased bowel sounds depending
on if they have significant gastrointestinal involvement.
They can have weak muscles,
which is detected on the muscular skeletal exam.
They can have swelling in their legs
if they have a complication such as heart failure
or pulmonary hypertension,
and on their fingers the findings can also vary.
They can have puffy fingers.
They can have skin thickening anywhere from head to toe.
They could have dilation, drop out or
abnormal nailfold capillaries,
which are detected by a dermatoscope.
They can also have discoloration of the skin,
swollen joints and a variety of other findings
that we can see.