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Frequently Asked Questions (FAQs) About Cystic Fibrosis

The Cystic Fibrosis Foundation estimates that more than 30,000 children and adults in the United States have cystic fibrosis (commonly referred to as CF).1 Whether you’ve been diagnosed with CF, or know someone who has, here’s a guide to some of the most frequently asked questions about CF.

Frequently asked questions about cystic fibrosis

What is CF?
How common is CF?
How does CF develop?
What causes CF?
How long do patients with CF live?
What special populations are affected by CF?
What type of CF research is happening?
What are common symptoms of CF?
How is CF diagnosed?
How is CF treated?
What are common complications of CF?
What are some lifestyle considerations for living with CF?

What is CF?

Cystic fibrosis (CF) is a genetically inherited disease that results in persistent lung infections and gastrointestinal issues that gradually damage many organs. It affects the lungs the most, but also the digestive system, including the pancreas, liver, intestines, and kidneys. CF may also impact the ears, nose and sinuses, sex organs, and the bones and joints.2,3

How does CF develop?

CF is what is known as an autosomal recessive genetic disorder, meaning that the person with CF inherited two copies of a defective gene — one copy from each parent. This mutated gene, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is located on the long arm (q) of chromosome 7 (7q31.2).2,3 Unlike some other genetic conditions, cystic fibrosis is equally prevalent in males and females. While the prevalence of CF is the same in both men and women, the severity of CF symptoms can vary in men and women.

People with only one copy of the defective CF gene are called carriers. Carriers do not develop CF because they have a dominant gene that causes their CFTR protein to be handled correctly in the body. CF is the most common life-limiting genetic disorder.4

What causes CF?

People with CF inherited two copies of a defective or mutated CF gene, meaning each parent was a carrier for CF. Called the cystic fibrosis transmembrane conductance regulator (CFTR) gene, this mutation prevents the CFTR protein from working properly.

The CFTR protein helps our cells move chloride, an element in salt, to the cell surface. Without chloride, water isn’t attracted to the cell surface, resulting in a thick, sticky mucus building up in the lungs and other organs.2,5

How common is CF?

Cystic fibrosis is one of the most common genetic disorders in white people in the United States, occurring in one of every 3,200 live births. It is less common in African Americans (1 in 17,000), Asian Americans (1 in 31,000) and Native Americans. While still unusual in Hispanics, it is increasing in prominence over time (1 in 4,000 to 10,000).6,7

  • More than 30,000 children and adults in the United States are living with CF.
  • Another 70,000 people with CF live in other countries.
  • CF occurs equally in males and females.
  • Approximately 1,000 new cases of CF are diagnosed each year.

How long do patients with CF live?

While there is no cure yet for cystic fibrosis (CF), people with CF are living longer, healthier lives than ever before. In fact, babies born with CF today are expected to live into their mid-40s and beyond. Life expectancy has improved so dramatically that there are now more adults with cystic fibrosis than children.

This progress resulted from many medical advances in CF treatment and advocacy by patient groups such as the Cystic Fibrosis Foundation (CFF). The Foundation began a patient registry in the 1960s that tracks the care each patient with CF receives. This data is then used to create improve the quality of care and drive related research and drug discovery.8

What special populations are affected by CF?

As with any chronic health condition, cystic fibrosis (CF) impacts people differently depending on their age and gender. In 1987, 70.2 percent of people with CF were 18 years old and younger and the total U.S. population of people with CF hovered around 15,000. With new medicines, equipment and better knowledge of nutrition and airway clearance, CF has become a disease with more adults (53.5 percent) than children (46.5 percent).9

Infants and babies

Nearly 60 percent of new cases of cystic fibrosis are diagnosed through newborn screening, and 75 percent are diagnosed by age 2.9,10 However, many of these children appear perfectly healthy to their parents, so this diagnosis is usually unexpected.

Men

Respiratory and gastrointestinal issues remain the primary health concerns of adult men with cystic fibrosis. However, infertility becomes a more central issue as relationships and building a family become of interest.

Nearly all men with CF (98 percent) are infertile. Their body creates sperm but a blocked or missing vas deferens prevents the sperm from mixing with semen. This defect does not affect sexual desire or performance.11,12 Additionally, men with CF are more likely to develop a condition called hydrocele, have a low sperm count, or to have undescended testicles.12

Women

Females with CF face some unique challenges, including earlier death compared to males. Doctors do not fully understand the difference in outcomes. Unlike most men with CF, women with CF are not infertile due to their diagnosis; although, they may have a harder time getting pregnant if their weight is low enough for menstruation to stop. Women with CF tend to get yeast infections (thrush) due to frequent antibiotic use. Urinary incontinence is also more common than the general population due to heavy coughing.

What type of CF research is happening now?

Current research includes studies that seek to find answers on the physical complications and behavioral aspects of CF, as well as the cost-effectiveness of new versus old treatments. Clinical trials are the method used to find new medical advances.

The complications of CF caused by CFTR malfunction include lung infections, inflammation, excess mucus, and gastrointestinal issues. Research into these complications seeks to find better treatments that ultimately lead to longer, healthier lives for people with CF. Investigations into the CFTR protein seek to understand how the protein works so that new drugs can restore proper function.

In addition to clinical trials, research is also being done on experimental gene therapy to correct the CFTR mutation that causes CF.

You can check on the many drugs under development today using the CF Foundation’s Drug Development Pipeline Tool.13

What are common symptoms of CF?

Common cystic fibrosis symptoms in infants

  • Salty skin or sweat
  • Meconium ileus
  • Poor growth, malnutrition
  • Unusual bowel movements
  • Gastrointestinal issues

Common cystic fibrosis symptoms in children

  • Respiratory symptoms
  • Poor growth, malnutrition
  • Sinus symptoms
  • Gastrointestinal issues
  • Mental health issues

Common cystic fibrosis symptoms in teens and adults

  • Respiratory symptoms
  • Gastrointestinal symptoms
  • Pancreatic symptoms
  • Male reproductive issues
  • Female urogenital issues
  • Mental health issues
  • Hearing loss
  • Bone disease, arthritis
  • Clubbing of the fingertips and toes

How is CF diagnosed?

Cystic fibrosis is most often diagnosed in childhood, but older people and those with rare forms of the disease may not be diagnosed until well into adulthood. The tests used to diagnose someone with CF are:

  • Prenatal testing
  • Newborn screening
  • Sweat test
  • Genetic tests
  • Nasal potential difference test1

How is CF treated?

A complex medical condition like cystic fibrosis (CF) requires a multi-pronged approach and dedication to treatment. Medications, vaccinations, enzymes, and airway clearance techniques only play one part in keeping someone with CF as healthy as possible. Lifestyle also matters, with nutrition, exercise, sleep habits, stress management, and organizational ability all playing equally important roles.

Making time for all of a person’s CF treatments requires organization and dedication. It varies by individual, but the average amount of time an adult with CF spends on their treatments (medications, enzymes, and airway clearance) is 108 minutes per day, regardless of the severity of their disease. Caregivers of children with CF report 74 minutes per day spent on treatment tasks.14

To maintain health, chunks of time also should be set aside daily for exercise, nutritious meals and snacks, and adequate sleep. These activities must be built into a day filled with school, work, hobbies, taking care of family, and at least quarterly visits to the CF care center.11,14

What are common complications of CF?

Common complications of CF include:

Have more specific questions about cystic fibrosis? Feel free to ask in our Q&A.

This article represents the opinions, thoughts, and experiences of the author; none of this content has been paid for by any advertiser. The Cystic-Fibrosis.com team does not recommend or endorse any products or treatments discussed herein. Learn more about how we maintain editorial integrity here.

  1. Cystic Fibrosis Foundation. Diagnosed With Cystic Fibrosis. Available at: https://www.cff.org/What-is-CF/Diagnosed-With-Cystic-Fibrosis. Accessed October 2019.
  2. Cystic Fibrosis Foundation. About Cystic Fibrosis. Available at: https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/. Accessed October 2019.
  3. National Organization for Rare Disorders. Cystic Fibrosis. Available at: https://rarediseases.org/rare-diseases/cystic-fibrosis. Accessed October 2019.
  4. Elborn JS. Cystic Fibrosis. Lancet. 2016 Nov 19;388(10059):2519-2531. doi: 10.1016/S0140-6736(16)00576-6. Epub 2016 Apr 29.
  5. Cystic Fibrosis NZ. What is cystic fibrosis? Available at: https://www.cfnz.org.nz/about/what-is-cf/. Accessed October 2019.
  6. Cystic Fibrosis Foundation. An Introduction to Cystic Fibrosis: For Patients and Their Families. Available at: https://www.cff.org/Intro-to-CF.pdf. Accessed October 2019.
  7. Cystic Fibrosis Foundation. Carrier Testing for Cystic Fibrosis. Available at: https://www.cff.org/What-is-CF/Testing/Carrier-Testing-for-Cystic-Fibrosis. Accessed October 2019.
  8. National Jewish Health. Cystic Fibrosis: Life Expectancy. Available at: https://www.nationaljewish.org/conditions/cystic-fibrosis-cf/life-expectancy. Accessed October 2019.
  9. Cystic Fibrosis Foundation. Patient Registry Annual Data Report 2017. Available at: https://www.cff.org/Research/Researcher-Resources/Patient-Registry/2017-Patient-Registry-Annual-Data-Report.pdf. Accessed 5/17/2019.
  10. Cystic Fibrosis Foundation. About Cystic Fibrosis. Available at: https://www.cff.org/What-is-CF/About-Cystic-Fibrosis. Accessed 5/17/2019.
  11. Cystic Fibrosis Foundation. Introduction to Cystic Fibrosis. Available at: https://www.cff.org/Intro-to-CF.pdf. Accessed 5/17/2019.
  12. Cystic Fibrosis Canada. Sexuality, Fertility and Cystic Fibrosis for Adults. CF-Canada-Sexuality-Fertility-and-Cystic-Fibrosis-Information-for-Adults.pdf. Accessed 5/17/2019.
  13. Cystic Fibrosis Foundation. Drug Development Pipeline. https://www.cff.org/Trials/Pipeline. Accessed October 2019.
  14. Sawicki GS, Sellers DE, Robinson WM. High treatment burden in adults with cystic fibrosis: challenges to disease self-management. J Cyst Fibros. 2008;8(2):91–96. doi:10.1016/j.jcf.2008.09.007.

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