What are the signs and
symptoms of cystic fibrosis?
Well, the most common symptoms
are salty-tasting skin,
patients with persistent coughing,
patients will have shortness of breath.
They may have wheezing.
These patients are going
to have poor weight gain,
despite an excessive appetite.
These patients will have
greasy, bulky stools,
and they may have nasal polyps,
or small, fleshy growths that
grow inside the nose.
On exam, the provider is going to
collect a full health history.
They're going to observe the patient's
vital signs, and because of the situation,
this patient may have tachypnea
or an increased respiratory rate,
and may also have hypoxia
or decreased oxygen levels,
and this is due to the mucus buildup.
You're going to do a full HEENT exam,
so head, eyes, ears, nose, and throat.
The patient may have abdominal
distension from bloating,
and they may have digital clubbing,
and this can happen due
to the chronic hypoxia.
In the nose, the clinician
may note nasal polyps,
and the patient may have
purulent nasal discharge,
and this is an example of a sinus infection.
When you percuss the patient's
sinuses, they may also be tender.
When you listen to the lungs, you
may hear hyperresonant sounds,
wheezing, crackles, a productive cough,
and the patient may have purulent sputum.
You can also examine the patient by
having them do lung function testing.
Monitoring a patient with
cystic fibrosis is complex.
It requires the regular review
by a multidisciplinary team
at a specialist cystic fibrosis center.
These specialists include pediatricians
or family physicians, nurses,
pharmacists, and clinical psychologists.
The next part of the assessment of
your patient with cystic fibrosis
includes the clinical assessment.
This is where you review
their clinical history.
You assess their adherence
to their medications,
including lung and GI medications.
You will do a full physical exam, and
you will measure the weight and length
or the height of your patient
to track their growth.
Next, you'll do the lung function testing
and this is where the spirometry comes in.
You'll check the FEV1 of your patient,
and this is the forced
expiratory volume in 1 second.
You'll also assess the FVC, which
is the forced vital capacity.
If the spirometry is normal, you
can do a lung clearance index.
The next part of the exam involves
respiratory secretions samples,
and this is to check for
If possible, the patient will expectorate
sputum to be sent to the lab.
You can also obtain a nasopharyngeal swab.
And you'll also assess the oxygen
saturation of your patient
to be sure that they're not hypoxic.
Cystic fibrosis is usually
diagnosed through a sweat test.
Sweat is collected and
the amount of chloride,
a component of salt in the
sweat, is measured.
A high level of chloride is an
indication of cystic fibrosis.
So the newborn screen is a
genetic test or a blood test.
If the patient scores a positive genetic
test, they may have a flawed CFTR gene.
Then a blood test can be done to check
for abnormal pancreatic function.
If the genetic or the blood
tests are positive,
the patient will undergo 2 sweat
tests to confirm their diagnosis.