This document provides information about cystic fibrosis including its definition, causes, history, impacts, and care plan. Cystic fibrosis is a genetic disease that causes thick, sticky mucus to build up in the lungs and digestive tract. It is caused by a mutation in the CFTR gene and affects the lungs, pancreas, and other organs. Life expectancy for those with cystic fibrosis has increased from around 6 years in 1950 to over 37 years currently due to advances in treatment. The document outlines screening and treatment recommendations including airway clearance techniques and monitoring for complications like cystic fibrosis related diabetes. National and online resources for support and information on cystic fibrosis are also provided.

1. Cystic Fibrosis
Created By: Tammy Wagner, Karen Byfield, Sherry Santineau,
Jack Lavoie, Shawna Maggard
Objectives:
To define Cystic Fibrosis
To explain and discuss history and causes of Cystic Fibrosis
To describe impact of Cystic Fibrosis in healthcare and nursing.
Identify and recognize that living with a chronic disease like
cystic fibrosis is possible through maintaining a balanced
lifestyle.
Identify expected outcomes in patients with Cystic Fibrosis
Collect and explain health screenings, health interventions,
health promotion and education in patients with Cystic Fibrosis
Identify national and community resources for patients with
Cystic Fibrosis
Describe effects of CF on prenatal care and child bearing
Identify occupational consideration and job hazards related to
CF
Identify and describe susceptibility to substance abuse and
ability to cope with stress
Description:
Cystic Fibrosis is a genetic disease of the secretory glands that
affects the lungs, pancreas, liver, intestines, sinuses, and sex
organs.
Definition:
Cystic Fibrosis is characterized by an abnormally thick and
sticky production of mucus in the body.

2. Mucus is normal in the body, it lubricates and protects passages
such as the respiratory airways and digestive tract (Genetics
Home Reference. 2017). Cystic Fibrosis is a mutation in the the
Cystic Fibrosis Transmembrane Regulator (CFTR) gene that
causes the over production of thick, sticky mucus that can block
these passages and create breeding grounds for infection
(National Human Genome Research Institute 2013). This
infection can lead to scaring, permanent lung damage and even
death. This mucus in the digestive tract can prevent the
absorption of nutrients leading to weight loss, malnutrition,
failure to thrive, as well as numerous long term problems
caused from poor nutrition even though the person may be
eating a solid health diet (Genetics Home Reference. 2017).
The affects this mucus has on the pancreas can alter insulin
production leading to diabetes. Reproductive health is also
affected from the mucus produced from cystic fibrosis often
leading to infertility (Genetics Home Reference. 2017).
3
History
1938- American Pathologist Dr. Dorothy Andersen named the
disease cystic fibrosis of the pancreas
Early 1900’s- Physicians name the disease mucoviscidosis
1595- Texts reference the link between children with salty skin
and early death rates
1948- Dr. Paul di Sant’Agnese noted the correlation of
increased salt in sweat of CF patients
1989- The gene (CFTR) was identified and its genetic code was
sequenced
1938, American Pathologist Dr. Dorothy Andersen described a

3. disorder in medical literature based on autopsy findings of
children that died from malnutrition; She named the disease
cystic fibrosis of the pancreas (Nick 2012). The disease has
also been called mucoviscidosis by other physician during the
same time period because of the thick mucus present (Nick
2012). Children in the middle ages were thought to be heed or
bewitched if they had salty skin, a symptom of CF (Nick 2012).
Dr. Paul di Sant’Agnese noted that cystic fibrosis patients
secreted more salt in their sweat during a heat wave in New
York in 1948. This lead to sweat testing for cystic fibrosis
(Nick 2012). In 1989 the Cystic Fibrosis Transmembrane
Regulator (CFTR) gene was identified and sequenced allowing
for further treatments to be developed (Nick 2012). What was
once a fatal childhood disease has now become a disease that is
being treated more successfully with a longer life expectancy.
At the beginning of the century children with CF were not
expected to life longer than a few years; with breakthroughs in
treatment the median predicted survival age today is around the
age of 40 (Cystic Fibrosis Foundation 2016).
4
Pathology
Cystic Fibrosis is caused from a mutation of the Cystic Fibrosis
Transmembrane Regulator (CFTR) gene
This gene is responsible for the transport of chloride, and in
turn water across cell membranes in the body.
The mutation of the CFTR gene prevents the chloride channels
from regulating the flow of chloride and water, this causes the
cells to become thick and sticky.
These thick and sticky cells, mucus, interfere with airways and
passages throughout the body and influence overall health.
The mutated CFTR gene must be passed from both parents to be

4. present in a child. This gene is responsible for sodium chloride
channel permeability across cell membranes. The mutation of
this gene prevents sodium chloride from crossing cell
membranes and therefore dehydrates cells causing a build up of
thick, sticky mucus. This mucus build up affects the lungs,
pancreas, digestive system, liver and reproductive organs
(National Human Genome Research Institute 2013).
5
Impacts Adults
Increasing number of Cystic Fibrosis patients are surviving into
adulthood.
These people function well until the disease becomes severe.
There are increasingly more adults living with cystic fibrosis
due to the advances in medicine over the last 10 years. When
quality of life was examined, it was found that those living with
Cystic Fibrosis had a worse quality of life due to impaired
physical function. They were less likely to be in employment
than others. As they get older and their disease progresses, they
suffer in self-esteem. Anxiety and depression become prevalent
(Pfeffer & Pfeffer, 2003, p. 64).
6
People With Cystic Fibrosis
Suffer with interpersonal relationships
Have sexual difficulties; body image, intimacy, and reduced
fertility
Have problems with independence
Suffer psychological problems of embarrassment due to cough

5. and sputum
People with Cystic Fibrosis have trouble fitting into society.
Interpersonal problems arise due to isolation and social
maladjustment. Fear of moving away from home is ever
present. More people with Cystic Fibrosis live in the parental
home into adulthood, especially men. Bilateral absence of the
vasa deferentia occurs in most men with CF causing infertility.
Mothers have been found to be over protective to the child/adult
of CF causing independence problems (Pfeffer & Pfeffer, 2003,
p. 66).
7
Impact of Cystic Fibrosis
Healthcare System and Nursing Practice:
CF patients have trouble obtaining health insurance
Having to learn to navigate the healthcare system as adults
Daily treatments are complex and time consuming
Development of clinical care structure
Transfer to specialty center as adults
CF patients are now getting pregnant and delivering their
children
Some CF patients have difficulty obtaining health insurance
after they age out of their parents’ plans (Peach, 2011)
Mastering these tasks will help the patients stay healthy as an
adult. These tasks include finding doctors, scheduling
appointments, picking up prescriptions, etc. (Sawicki, 2009)
The treatment advances require more time and effort put into
the treatment and challenges are placed onto the patient for
better self-management strategies (Sawicki, 2009)
The structure supports the patients with complex treatment and
preventions (Sawicki, 2009)

6. When children reach adulthood, they should transfer to a cystic
fibrosis specialty center (Medline Plus, 2017)
The number of women who have become pregnant have doubled
in the last 20 years. Because of improved health outcomes,
women with CF face reproductive health decisions. This
includes whether to have a child or not (Ladores, Kazmerski,
and Rowe, 2016)
8
Why live into adulthood with cystic fibrosis
Early diagnosis
Treatment plan
Good health until adulthood
Live to 37 years old
Improved management and knowledge of CF
People are not detected until age 18 or older
Milder form of disease
Most children with CF are diagnosed by age 2. Early diagnosis
of CF and treatment plan can improve survival (Medline Plus,
2017)
They are able to take part in normal school activities and attend
school (Medline Plus, 2017)
The life span for people with CF who live to adulthood is about
37 years old. Death is usually caused by lung complications
(Medline Plus, 2017)
Adults are more aware of proper management and knowledge of
CF.
For a small number, the disease is not detected until age 18 or
older (Medline Plus, 2017)
9
Validation of Cystic Fibrosis

7. Statistics
Life expectancy:
1950 6 years of age
2007 37.4 years of age
Number of people with CF in U.S. :
1 in 2,500 – 3,500 Caucasian-Americans.
1 in 4,000 – 10,000 Hispanic-Americans.
1 in 15,000 – 20,000 African-Americans.
1 in 100,000 Asian-Americans
Cystic Fibrosis (CF) is hereditary and begins at conception. A
person does not “come down with CF”. As diagnostics improve
however, people with chronic problems that are lesser in
severity are being diagnosed later in life. Life expectancy has
greatly increased since 1950 because of improved treatment
techniques and proper diagnoses. People with CF are now
living close to 40 years of age. Quality of life has also
improved due to better understanding of the disease,
improvement in treatment, and proper nutritional awareness
(American Lung Association [ALA], 2017).
10
Validation of Cystic Fibrosis
Demographics
According to Cystic Fibrosis Foundation Patient Registry, in
U.S.:
Approximately 30,000 Americans are living with cystic fibrosis.
Nearly 1,000 new cases of CF are diagnosed each year.
More than 75 percent of people with CF are diagnosed by age 2.
More than half of the CF population is age 18 or older.

8. According to the Cystic Fibrosis Foundation, there are about
30,000 Americans, 20,000 Europeans and 3,000 Canadians with
CF. This disease occurs mostly in Caucasians of Northern
European decent. In addition, about 1 in every 20 Americans is
an unaffected carrier of an abnormal “CF gene.” Most of these
people are unaware they are carriers There is only one risk
factor for getting CF and that is having two parents who carry
the abnormal CF gene and pass the abnormal gene to their child.
(2016).
11
Care Plan
Nursing Diagnosis: Ineffective Airway Clearance related to
excessive secretions and ineffective cough
Nursing Intervention Classification: Airway management
Nursing Outcome Classification: Respiratory Status: Airway
Patency. Patient will maintain clear open airways as evidenced
by ability to cough up secretions, normal breath sounds, and
normal rate/depth of respirations
Ongoing Assessment/Interventions:
Assess airway for patency. Maintaining airway is the first
priority
Auscultate lungs for decreased, absent, or adventitious breath
sounds that may indicate obstruction
Use pulse oximetry to monitor oxygen saturation
Assess respirations, noting quality, rate, depth, and presence of
dyspnea on exertion
Position patient in upright position to promote lung expansion
and improved air exchange
Lung disease and airway issues account for the majority of
morbidity and cause of death for adult patients with cystic
fibrosis (Gulanick, 2014). Due to the over secretion of thick
mucus and inability to clear the lungs efficiently results in

9. frequent chronic infection.
12
Care Plan
Screen for Cystic Fibrosis in adults:
Swab the inner cheek for tissue sample
Sweat Test (high chloride level in sweat indicates CF)
Screen for Cystic Fibrosis Related Diabetes (CFRD)
Symptoms: weight loss, protein catabolism, lung function
decline
Oral Glucose Tolerance Test
Screen for Osteoporosis
DEXA Test: measure bone density, done every 1-5 years
Maintain good health
Avoid being around ill/sick people, avoid kissing, hugging, or
sharing personal items.
Get influenza vaccine, practice good hand hygiene, good
nutrition (high calorie, high fat)
It is a necessity to constantly monitor nutrition and pulmonary
function of CF patients as well as screen for complications
associated with the disease. Though most cases of Cystic
Fibrosis are diagnosed in early childhood, it still possible to
find adults living with the disease and they might not be aware
of it. The diagnosis is due to a wide range of CF manifestations
that a patient may be presenting with. Adults that present with
chronic bronchitis, sinusitis, male infertility or pancreatitis
should be screened for CF (George & Hazle). One way of
screening for CF is to swab the inner cheek for a tissue sample
and another is the sweat test. High amounts of chloride in a
person’s sweat indicates CF. Once the diagnosis of Cystic
Fibrosis has been determined then immediate care can be
implemented to treat the disease. Cystic Fibrosis Related
Diabetes does not exhibit any symptoms in CF patients. Signs

10. and symptoms of CFRD are weight loss, protein catabolism, a
decline in lung function, and increased mortality” (Moran,
2010). A1C screening for CFRD is not recommended because it
does not correlate with glucose tolerance in CF patients. The
preferred testing method for CFRD is the oral glucose tolerance
test. It works well because the decline in lung function has no
effect on the test. Osteoporosis is another complication that
may develop and it should be screened for in patients suffering
from CF. The test of choice is the is the DEXA which measures
bone density. The DEXA scan is an x-ray that can detect weak
bones. The scan should be done every 1 to 5 years. Infection
prevention is the key to maintaining good health. To prevent
from getting ill, CF patients should avoid being around people
who are ill, get their annual immunizations such as the
influenza shot, and practice good hand hygiene. Good nutrition
is another important factor in promoting health. Having a high
calorie, high fat diet is important because malabsorption of
nutrients occurs in CF patients. Some interventions that CF
patients should implement are to avoid shaking hands or
hugging others, kissing, do not share utensils of cups, and do
not participate in exercise classes at a gym.
13
Resources
Community
CF2Chat
a forum for people to chat about CF dedicated to therapy and
health tips.
National
Youtube.com has a Cystic Fibrosis channel:
CysticFibrosisUSA
Mayo Clinic
Cystic Fibrosis Foundation

11. Cystic Fibrosis Living
Online Resource relevant to CF: CF Living
http://www.cfliving.com/resources/resources-links.jsp
Cystic Fibrosis Foundation is a world leader in dedication to
curing cystic fibrosis and improving the quality of life for those
living with CF. https://www.cff.org/
Mayo Clinic’s offer resources including help for the family and
spouse of those with CF.
There is so much information on the internet about CF (CF
Living website, 2017).
14
Resources For Cystic Fibrosis
Cystic Fibrosis Foundation (https://www.cff.org/)
Help One Love (http://helponeloveone.org)
CF Living (http://www.cfliving.com)
Cystic Fibrosis .com (http://cysticfibrosis.com)
A wealth of information and resources for people affected by
cystic fibrosis. The CFF is one of the world’s largest
organizations dedicated to finding a cure for cystic fibrosis.
Help One Love provides funding to adults with cystic fibrosis,
primarily to aid with nutritional needs and other assistance
when financially possible.
A place for community support and information for those living
with cystic fibrosis. A place to find a management plan and to
find care teams to help learn how to live with CF.

12. CysticFibrosis.com is one of the world's largest social media
networks dedicated exclusively to the cystic fibrosis
community. In addition to the forums, the site contains
information on clinical trials, gene therapy, testing,
associations, research and events.
15
References:
American Lung Association. (2017). Learn about Cystic
Fibrosis. Retrieved from: https://www.lung.org/lung-health-and-
diseases/lung-lookup/cystic-fibrosis/learn-about-cystic-
fibrosis.html
CF Living website. (2017).
http://www.cfliving.com/resources/resources-links.jsp
Cystic Fibrosis Foundation. (2016). About Cystic Fibrosis.
Retrieved from: http://www.cH.org/what-is-CF/Testing/Carrier-
Testing-for-CF/
Genetics Home Reference. (2017). Cystic Fibrosis. US National
Library of Medicine. Retrieved from
https://ghr.nlm.nih.gov/condition/cystic-fibrosis
George, C., & Hazle, L. (n.d.). Cystic Fibrosis. Retrieved
January 24, 2017, from
http://nursing.advanceweb.com/Continuing-Education/CE-
Articles/Cystic-Fibrosis.aspx
References:
Gulanick, M. & Myers, J. (2014). Nursing care plans :
diagnoses, interventions, and outcomes. Philadelphia, PA:

13. Elsevier/Mosby.
Ladores S., Kazmerski T., and Rowe S. (2016) A Case Report of
Pregnancy During Use of Targeted Therapuetics for Cystic
Fibrosis. Journal of Obstertric, Gynecologic, & Neonatal
Nursing (Volume 46, Number 1) (pg. 72).
Medline Plus Medical Encyclopedia. (2017). Cystic Fibrosis.
National Institutes of Health/ U.S. National Library of
Medicine.
Moran, A., Brunzell, C., Cohen, R. C., Katz, M., Marshall, B.
C., Onady, G., … the CFRD Guidelines Committee. (2010).
Clinical Care Guidelines for Cystic Fibrosis–Related Diabetes:
A position statement of the American Diabetes Association and
a clinical practice guideline of the Cystic Fibrosis Foundation,
endorsed by the Pediatric Endocrine Society. Diabetes
Care, 33(12), 2697–2708. http://doi.org/10.2337/dc10-1768
References
National Human Genome Research Institute. (2013). Learning
About Cystic Fibrosis. Retrieved from
https://www.genome.gov/10001213/
Nick, J. (2012). Cystic Fibrosis: Hystory. National Jewish
Health. Retrieved from
https://www.nationaljewish.org/conditions/cystic-
fibrosis/history
Pfeffer, P. E., & Pfeffer, J. M. (2003). The Psychosocial and
Psychiatric Side of Cystic Fibrosis in Adolescents and Adults.
Journal of Cystic Fibrosis, 2, 61-68.
http://dx.doi.org/10.1016/S1569-1993(03)00020-1

14. Sawicki G., Sellers D., and Robinson W. (2009). High
Treatment Burden in Adults With Cystic Fibrosis: Challenges to
Disease Self-Management. Journal of Cystic Fibrosis.