Hello. I'm Dr. Sarah Chalmers,
a pulmonologist at Mayo Clinic.
In this video, we'll cover
the basics of cystic fibrosis.
What is it?
Who gets it?
The symptoms, diagnosis and treatment.
Whether you're looking for answers for
yourself or someone you love,
we're here to give you
the best information available.
Cystic fibrosis is a disorder
that damages your lungs,
digestive tract and other organs.
It's an inherited disease caused by
a defective gene that can be
passed from generation to generation.
Cystic fibrosis affects the cells that
produce mucus, sweat and digestive juices.
These secreted fluids are
normally thin and slippery.
But in people with CF, they're
thick and sticky.
Instead of acting as lubricants,
these secretions plug up the tubes,
ducts and airways in your body.
Although there is no cure
for cystic fibrosis,
people with this condition are
generally able to live normal lives.
There are many tools and
techniques doctors use to help manage
this complicated condition and with
improvement in screening and treatments,
life expectancy for those with
cystic fibrosis is better than ever before.
Simply put, cystic fibrosis is a gene defect.
A defect to this gene
changes how a salt moves in and out of
cells, resulting in
thick, sticky mucus in the respiratory,
digestive and reproductive systems.
It's an inherited condition.
A child needs to inherit one copy of
the mutated gene from
each parent to develop cystic fibrosis.
If they only inherit one copy from
one parent, they won't develop it.
However, they will be
a carrier of that mutated gene,
so they could pass it along to
their own children in the future.
Because CF is an inherited disorder,
family history determines your risk.
Although it can occur in all races,
cystic fibrosis is most common in
white people of North European ancestry.
There are two kinds of symptoms
associated with cystic fibrosis.
The first are respiratory symptoms.
Thick, sticky mucus can clog
the tubes that carry
air in and out of your lungs.
This can trigger a persistent cough
that produces thick mucus,
wheezing, exercise intolerance,
repeated lung infections,
and inflamed nasal passages or
a stuffy nose or recurrent sinusitis.
The second type of symptoms are digestive.
That same thick mucus
that can clog your airways
can also bog tubes that carry
enzymes from your pancreas
to your small intestine.
This can result in foul-smelling
or greasy stools,
poor weight gain and growth,
intestinal blockage,
or chronic and severe constipation,
which may include frequent
straining while trying to pass stool.
If you or your child show symptoms of
cystic fibrosis or if
someone in your family has CF,
talk with your doctor about
testing for the disease.
Since this disease is an inherited condition,
reviewing your family history is important.
Genetic testing may be
done to see if you carry
the mutated gene that
triggers cystic fibrosis.
A sweat test may also be conducted.
CF causes higher than
normal levels of salt in your sweat.
Doctors will examine the levels of salt in
your sweat to confirm a diagnosis.
Because this condition is
passed from parent to children,
newborn screening is routinely
done in every state in the U.S.
Early diagnosis of CF
means that treatments can begin immediately.
Unfortunately, there is
no cure for cystic fibrosis,
but proper treatment can ease your symptoms,
reduce complications,
and improve your quality of life.
Doctors may decide that
certain medications are necessary.
These could include antibiotics
to treat and prevent lung infections,
anti-inflammatories to lessen
the swelling in your airways,
or mucus-thinning drugs to help
expel mucus and improve lung function.
Medications can also
help improve digestive function.
From stool softeners to enzymes,
to acid-reducing drugs.
Some medications can even target
the gene defect that causes cystic fibrosis,
aiding the faulty proteins to improve
lung function and reduce salt in your sweat.
Outside of medications,
airway clearance techniques,
also called chest physical therapy,
can relieve mucus obstruction and help to
reduce infection and
inflammation in the airways.
These techniques loosen
the thick mucus in the lungs,
making it easier to cough up.
In some cases, doctors turn to surgery to
help alleviate conditions that can
arise from cystic fibrosis.
For instance, nasal and
sinus surgery to help you breathe,
or bowel surgery to
help improve digestive function.
In life-threatening instances,
lung transplant and
liver transplant had been performed.
Managing cystic fibrosis can be very complex.
So consider getting
treatment at a center with
medical professionals trained in
the disorder to evaluate
and treat your condition.
You can even ask your physician
about clinical trials.
New treatments, interventions and tests are
constantly under development to help prevent,
detect, and treat this disease.
Learning you or someone you know has
cystic fibrosis can be
incredibly challenging.
It's okay to feel depressed,
anxious, angry, or afraid.
In time, you'll find ways to cope,
find support and talk to
others who are going through it too.
Look to your friends and family to help
manage stress and reduce anxiety.
Seek professional help.
Remember, physical conditions come with
an emotional and mental burden. And take
the time to learn about cystic fibrosis.
It's a complicated, severe disorder.
So don't hesitate to talk to
your medical team about your questions or
concerns. With the knowledge and
treatment available to doctors today,
life with cystic fibrosis is
better than ever before.
If you'd like to learn even
more about cystic fibrosis,
watch our other related videos
or visit Mayo Clinic.org.
We wish you well.