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Cystic Fibrosis
Student Health Information Page compiled by: Naomi Hill

What is Cystic Fibrosis (CF)?

Cystic Fibrosis is a life-threatening, genetic and chronic disease that:
  • Affects approximately 83,000 patients worldwide
  • Is caused by a defective gene
  • Impacts the lungs, digestive and reproductive systems
CF causes mucus, sweat and digestive juices to thicken and become sticky. Therefore, these fluids clog their various pathways instead of lubricating them causing many of the symptoms associated with CF.

How is CF passed on?

Copies of the defective CF gene, called Cystic Fibrosis Transmembrane Regulator (CFTR) protein, are passed down from parents to their children. Copies from each parent must be inherited by a person in order to have CF.

Who is affected by CF?

Cystic Fibrosis patients include:
  • Approximately 83,000 patients worldwide, children and adults
  • 30,000 United States (approximately 2,500 babies born each year)
  • 50,000 Europe
  • 3,000 Canada
  • Most common in Caucasians, but is found in all races and ethnicities
Some people may be symptomless carriers. This represents an additional 12 million people (about one in every 31 Americans.)

What are the signs and symptoms of CF?

The most common signs or symptoms of CF are:
  • Very salty-tasting skin
  • Persistent coughing (sometimes with mucus or blood)
  • Wheezing, shortness of breath, breathlessness
  • Poor growth or poor weight gain regardless of good appetite
  • Frequent greasy, bulky stools or difficulty in bowel movements
  • Clubbing or rounding and enlargement of fingers and toes
Some respiratory problems associated with CF include the following:
  • Chronic lung infections
  • Small, fleshy growths in the nose, called nasal polyps
  • Coughing or vomiting blood
  • Collapsed lung
Some gastrointestinal complications include:
  • Nutritional deficiencies
  • Diabetes
  • Blocked bile ducts
  • Protrusion of the rectum through the anus
It is also important to note that infertility occurs in almost all men. Osteoporosis is another complication also associated with CF. Talk to your doctor if your child exhibits any of the above symptoms or complications.

How is CF diagnosed?

Genetic Testing: Prenatal genetic testing can indicate whether a fetus has CF. Prenatal testing involves either removing sample of fluid from the sac around the fetus (amniocentesis) or removing tissue sample from developing placenta amniocentesis (chorionic villus biopsy). This fluid or tissue is then tested for defects in the CFTR gene.

Additionally, genetic testing can be performed by taking blood or cheek cells samples to detect the presence of two copies of the defective gene.

CF carrier screening is available in the U.S. and is recommended for couples who are planning a pregnancy or seeking prenatal care.

Newborn Screening: Every state has legislation for newborn screening of CF and most children are diagnosed at birth. More than 75 percent of children are diagnosed by the age of two.

Sweat Testing: When symptoms are present, doctors will order a sweat test or a genetic test to confirm the diagnosis. A sweat test measures salt in sweat from the skin. CF patients have a higher level of salt which can help with diagnosis.

What are the treatments for CF?

With the advent of new research and new therapies, a CF patients’ life expectancy has increased from 5 to 20 to early 40’s years old over the course of 1955, 1981 and 2015, respectively. These strides, however, have not produced a cure, to date, therefore, staying healthy through diet and exercise is the cornerstone of living a longer life with CF.

Maintenance of optimal lung function and nutritional intake through adherence to a variety of treatment routines is critical to a CF patient’s survival and life expectancy. Treatments include:

  1. Opening airways: Inhaled medications such as Pulmozyme
  2. Clearing mucus in airways: Mechanical pounding vests
  3. 3. Treating infections of airways: Killing bacteria with antibiotics
  4. Nutrient absorption: Meal-time pills such as pancreatic enzymes

Treatments can often take 2-4 hours out of a CF patient’s daily routine which can often impact their compliance with taking medications. It is important for patients to remember that their health comes first and the importance of treatment adherence which leads to better outcomes.

Lung transplantation may be an option for those CF patients with severe lung disease.

Developing a support system is important patients, caregivers (often parents), and family members. Many support groups exist that can provide the much needed advice and first hand-knowledge about how to deal with various aspects of CF.

Resources and Support

To learn more about Cystic Fibrosis including various support services and ways to donate, visit some of the following sites.

Cystic Fibrosis Foundation (CFF)
301-951-4422, 800-344-4823
www.CFF.org

National Institutes of Health National Heart, Lung, and Blood Institute (NHLBI)
www.nhlbi.nih.gov

Boomer Esiason Foundation (BEF)
www.esiason.org

Cystic Fibrosis Research, Inc. (CFRI)
www.cfri.org/home.shtml

CF Living
www.cfliving.com/

Cystic Fibrosis.com
www.cysticfibrosis.com/

Cystic Fibrosis Worldwide
www.cfww.org/