GoodRx Guide
Cystic Fibrosis: Your GoodRx Guide
Comprehensive information for you or a loved one — including treatment options and discounts on popular medications.
Definition
Cystic fibrosis (CF) is a genetic disorder that affects the:
Lungs
Sinuses
Pancreas
Digestive tract
Liver
Reproductive organs
There are about 1,000 people diagnosed with CF each year, making it one of the most common genetically acquired diseases. People with CF have specialized healthcare needs. Children and adults with CF benefit from working with a treatment team at a cystic fibrosis care center.
CF affects people from all racial and ethnic groups, but white Americans are born with CF more often than other groups of people.
Causes
The cause of CF is a mutation in a protein — the cystic fibrosis transmembrane conductance regulator (CFTR).
This protein moves chloride ions across organ membranes. Many organs can’t function without the CFTR gene.
CF is an autosomal recessive condition that some people are born with. That means people with CF need to inherit two changed copies of the CFTR gene, one from each biological parent.
People who only have one changed copy of the CFTR gene are “carriers” of CF. But they don’t have any symptoms.
Scientists have discovered many CFTR mutations. Not everyone with CF has the same gene changes, which means people with CF can have different symptoms and long-term outlooks. Even people with the same gene changes can experience very different symptoms over time. This knowledge helps CF care teams develop specific treatment plans for each person, based both on their symptoms and their genetic code.
Symptoms
Each person with CF experiences different symptoms that depend on their CFTR changes. Some people might experience more symptoms related to one organ than another. Others may have more severe symptoms overall. We’ll review where people most commonly experience symptoms.
Lungs and sinuses
The lungs and sinuses are the organs most affected by CF. The CFTR gene moves water into the lungs and sinuses. Without this gene, the mucus in these organs becomes very thick and hard to move. And this leads to inflammation.
At first, children experience coughing, trouble breathing, and frequent infections. Over time, they develop scarring and damage to their lungs.
Pancreas
The pancreas makes proteins that help digest fats and absorb vitamins. When the CFTR gene isn’t working, the pancreas can’t do these jobs. People can experience diarrhea, malnutrition, and poor growth (in children). They may also develop pancreatitis and vitamin deficiencies.
Some people with CF develop Type 1 diabetes. Without proper treatment, Type 1 diabetes can lead to other medical conditions, like kidney and eye problems.
Gastrointestinal tract
People with CF can develop distal intestinal obstructive syndrome. This is a type of bowel obstruction that causes severe abdominal pain, vomiting, and inability to eat. People often need treatment in the hospital until it resolves.
Liver
People with CF develop gallstones frequently. Sometimes these stones don’t cause any symptoms. But in some cases they can lead to liver disease and scarring (cirrhosis).
Bones
People with CF often develop low bone density. This is often due to a combination of factors, including low vitamin D levels, malabsorption, and treatment side effects.
Kidneys
People with CF are more likely to develop kidney stones than people who don’t have CF.
Reproductive organs
CF also causes male infertility and decreased female fertility. People with CF usually need help from assisted reproductive technologies to have a baby.
Diagnosis
The diagnosis of CF is a multistep process that starts with newborn screening. A newborn screen checks a blood sample for multiple genetic conditions. Almost every state checks for CF as part of newborn screening.
If the newborn screen shows a concern for CF, the next steps are:
Sweat test: This test measures the amount of salt in a baby’s sweat. Children with CF have more salt in their sweat. Only certified labs do sweat tests. It’s one of the most accurate tests for diagnosing CF. The test is not painful and does not need any preparation.
Genetic counseling: If a sweat test shows signs of CF, the next step is genetic counseling. This includes genetic testing for a child and their family members.
Clinical evaluation: A pulmonologist (lung specialist) or healthcare provider from your local CF center will examine your child either before or after the sweat test.
Since CF is part of the newborn screen in the U.S., most people are diagnosed as infants. This allows them to start treatment early, which leads to better long-term outcomes.
Some people who have more mild CF symptoms or who were born outside the U.S. may not get diagnosed until they’re older. The steps for these people are the same, except they will start with a sweat test.
Treatments
Researchers developed the first successful treatment program for CF in the 1950s. There have been many incredible advances to improve the health and well-being of people with CF.
Though there’s no cure for the disease, there are many treatment options that can improve the quality of life and let people live longer, healthier lives.
Every person’s treatment plan will be unique to their individual needs. But people with CF need a care team that includes medical providers, nutritionists, counselors, and other CF experts. The team will focus on:
Optimizing nutrition
Managing medications
Improving lung health with airway clearance and other treatments
Preventing and treating infections
Screening for other medical conditions (like diabetes)
Supporting overall well-being, including mental health, education, and independent living
Assisting with reproductive planning and fertility preservation
A number of medications help with the lung symptoms of CF:
Antibiotics
Bronchodilators
Mucus thinners
Some people need some or all of these medications. They may also need extra vitamins and nutritional supplements.
Living with
CF is a complex disease. People living with CF need care from multiple medical specialists to make sure they have the best possible control of all their symptoms. This lets them live longer and healthier lives.
There are many things to navigate when you’re living with CF or caring for someone with CF. So it’s normal to have lots of questions.
The right support can make things easier. There are many ways to learn more about up-to-date treatments and the support communities near you. Connecting to your closest cystic fibrosis center is an important first step.
The center can give you access to medical specialists and connect you with resources and other people living with CF. You can also learn more about CF from:
Common concerns
There are some things to consider as you, or a loved one, navigate activities, school, work, and other areas of life. A person with CF needs some self-care regimens, like lung clearance with a vest and nebulizer treatments, that take time (sometimes 1 to 2 hours a day).
Nutritional supplements and vitamins are also necessary and need to be taken with meals and snacks. These things take time and consideration to plan and work around. But with the help of a care team, you can pursue the beautiful opportunities life offers while living with CF.
There’s no cure for CF. But researchers have made astounding medical advances in the treatments of CF symptoms. Life expectancy continues to improve along with the quality of life for people living with CF.
Lung transplants do not cure the disease process of CF, but they can significantly improve life expectancy and quality of life.
References
Baby’s First Test. (2020). Conditions by state.
Claire’s Place. (n.d.). Support families network.
Clinical and Functional Translation of CFTR2. (2022). The basics.
Cystic Fibrosis Canada. (2014). Lung transplantation and cystic fibrosis.
Cystic Fibrosis Foundation. (n.d.). About cystic fibrosis.
Cystic Fibrosis Foundation. (n.d.). Find a CF care center.
Cystic Fibrosis Foundation. (n.d.). Managing CF.
Cystic Fibrosis Foundation. (n.d.). Support.
Cystic Fibrosis Foundation. (n.d.). Sweat test.
Cystic Fibrosis Foundation. (n.d.). Testing for CF.
Cystic Fibrosis Foundation. (n.d.). Types of CFTR mutations.
Gibney, E. M., et al. (2003). The association of nephrolithiasis with cystic fibrosis. American Journal of Kidney Diseases.
Grey, V., et al. (2008). Prevalence of low bone mass and deficiencies of vitamins D and K in pediatric patients with cystic fibrosis from three Canadian centers. Pediatrics.
Grosse, S., et al. (2005). Newborn screening for cystic fibrosis: Recommendations from the Centers for Disease Control and Prevention. American Family Physician.
Koerner, T. (2016). Navigating the limits of CF. Cystic Fibrosis Foundation.
Lewis, D. (2015). Role of the family physician in the management of cystic fibrosis. American Family Physician.
The Bonnell Foundation. (n.d.). We are the extended CF familia.
