Cystic Fibrosis
Cystic fibrosis is a genetic condition that causes thick, sticky mucus to build up in the body, affecting the lungs, digestive system, and other organs. While there is no cure yet, advances in treatment have dramatically improved life expectancy, with many people now living into their 50s, 60s, and beyond.
Table of contents
- What is Cystic Fibrosis?
- What Causes Cystic Fibrosis?
- Symptoms of Cystic Fibrosis
- How Cystic Fibrosis is Diagnosed
- Treatment Options
- Living With Cystic Fibrosis
- Life Expectancy and Outlook
What is Cystic Fibrosis?
Cystic fibrosis is a genetic disease that changes how a protein in the body works. This affects the cells that make mucus, sweat, and digestive juices[1]. In healthy people, mucus is thin and slippery, protecting the airways, digestive tract, and other organs. In people with cystic fibrosis, the mucus becomes thick and sticky[2].
This thick mucus can build up and cause blockages, damage, or infections in affected organs[2]. The disease mainly affects the lungs and airways, making it hard to breathe and causing frequent infections. It’s called cystic fibrosis because it also causes cysts and scarring (which doctors call fibrosis) in the pancreas[3].
- Lungs and airways
- Pancreas
- Liver
- Sinuses
- Intestines
- Sex organs
There are two main types of cystic fibrosis. Classic cystic fibrosis often affects multiple organs and is usually diagnosed in the first few years of life. Atypical cystic fibrosis is a milder form that may only affect one organ or have symptoms that come and go. It’s usually diagnosed in older children or adults[3].
What Causes Cystic Fibrosis?
Cystic fibrosis is caused by changes (called mutations) in a gene called CFTR. This gene makes a protein that works like a gate in the cell’s outer layer, allowing minerals to pass through. Normally, the CFTR protein creates a gate for chloride ions, which are minerals with a negative electrical charge. When chloride moves out of the cell, it takes water with it, which thins out mucus and makes it slippery[3].
In people with cystic fibrosis, gene mutations prevent this from happening properly. The CFTR protein may be missing completely, present in only small amounts, or not work correctly. As a result, minerals that should move water into the mucus get trapped inside cells, leaving the mucus thick and sticky[3]. There are over 2,000 possible mutations in the CFTR gene that can cause cystic fibrosis[6].
Cystic fibrosis is an inherited condition. A child needs to inherit one copy of the mutated gene from each parent to develop the disease. If a child inherits only one copy from one parent, they won’t develop cystic fibrosis, but they will be a carrier of that gene[1].
If two carriers have a baby, there is a 1 in 4 (25%) chance their child will have cystic fibrosis, a 2 in 4 (50%) chance their child will be a carrier but not have the disease, and a 1 in 4 (25%) chance their child will neither have cystic fibrosis nor be a carrier[12].
Symptoms of Cystic Fibrosis
The symptoms of cystic fibrosis can vary widely from person to person. Some people have few or no symptoms, while others experience severe symptoms or life-threatening complications[2].
Symptoms affecting the lungs and breathing include a cough that doesn’t go away and brings up mucus, wheezing and shortness of breath, frequent lung infections such as repeated pneumonia or bronchitis, frequent sinus infections, and nasal congestion[3][12].
Symptoms affecting the digestive system include constipation, stomach pain and bloating, large and greasy stools that are hard to flush away, and loose or oily bowel movements[3][12].
Other symptoms can include slow growth in children, failure to gain weight despite having a good appetite and taking in enough calories, swollen fingertips and rounder nails, and very salty sweat that can leave small crystals on the skin[3][12].
People with atypical cystic fibrosis may experience chronic sinusitis, nasal polyps, dehydration or heatstroke from abnormal electrolyte levels, diarrhea, pancreatitis, and unintended weight loss[3].
How Cystic Fibrosis is Diagnosed
Cystic fibrosis is one of the conditions that all babies are checked for as part of newborn screening programs that have been implemented in many countries[11][12]. If a newborn screen comes back positive, additional tests are needed to confirm the diagnosis[7].
The main test used to diagnose cystic fibrosis is called a sweat test or sweat chloride test. This test measures the amount of salt in a person’s sweat. People with cystic fibrosis usually have high levels of salt in their sweat[2][12].
Genetic tests can also be done to look for mutations in the CFTR gene. Blood tests may be performed to check for various health markers[3]. If cystic fibrosis is suspected in older children or adults who weren’t diagnosed as babies, they will have a blood test followed by a sweat test[12].
Additional tests may include chest X-rays, lung function tests, and stool tests to check for digestive problems[3]. People who have a relative with cystic fibrosis or who are known carriers can arrange for carrier testing themselves[12].
Treatment Options
Although there is no cure for cystic fibrosis yet, treatments have improved greatly in recent decades. Treatment focuses on managing symptoms, preventing complications, and improving quality of life[1][2].
Airway Clearance Techniques
Airway clearance techniques help loosen lung mucus so it can be coughed out. Removing mucus improves breathing and lowers the risk of infection[8]. These techniques are a daily part of life for people with cystic fibrosis and include chest physical therapy and various breathing exercises[8].
Medications
Several types of medicines are used to treat cystic fibrosis. CFTR modulators are medicines that help the lungs work better by reducing the effect the altered cystic fibrosis gene has on cells in the lungs[12]. These are specific treatments designed to correct the defective protein[13].
Other medications include medicines to widen airways and make breathing easier, medicines that make it easier to cough up mucus, antibiotics to treat and prevent infections, and steroid medicines to reduce inflammation in the airways[12].
Nutritional Support
Good nutrition is especially important for people with cystic fibrosis. The thick mucus can block ducts that release digestive enzymes, making it hard to get nutrients from food[3]. People with cystic fibrosis often need up to twice the amount of daily calories as people without the condition[16][19].
Treatment may include pancreatic enzyme supplements to help digest food, vitamin supplements (especially vitamins A, D, E, and K), and working with a dietitian to create a high-calorie, high-fat diet[12][19].
Healthcare Team
Managing cystic fibrosis requires a team of healthcare providers. The team typically includes doctors specializing in the lungs and other organs, respiratory therapists, nurses, nutritionists and dietitians, physical therapists, pharmacists, psychologists, social workers, and genetic counselors[8].
Living With Cystic Fibrosis
Living with cystic fibrosis requires daily management and lifestyle adjustments. Most people diagnosed with cystic fibrosis are now living well into adulthood, attending college, getting jobs, and having families[14].
Avoiding Infections
Because cystic fibrosis creates an environment where germs thrive in the lungs, avoiding infections is crucial. This means staying at least 6 feet away from anyone who’s sick, washing hands frequently with soap and water, cleaning and disinfecting medical equipment properly, and staying current on vaccines including the flu shot[15][16].
People with cystic fibrosis should avoid activities that put them near other people with cystic fibrosis to lower the risk of spreading illness[16].
Exercise and Physical Activity
Exercise is recommended for people with cystic fibrosis. It helps clear mucus out of the lungs, strengthens the heart and muscles, and improves overall fitness[15][16]. Work with your healthcare team to find an exercise program that works best for you[16].
Eating Well
Following a well-balanced, high-calorie diet and drinking plenty of fluids is important. This may include specific recommendations from your healthcare team about eating a high-calorie, high-fat diet with about 40% of total calories from fat[15][19].
Emotional Health
Living with a chronic illness like cystic fibrosis can be very challenging emotionally. Patients and their loved ones may feel anxious or depressed. Mental health support is an important part of cystic fibrosis care[15]. If you experience signs of anxiety or depression such as sadness, low energy, feeling hopeless, or difficulty concentrating, talk to someone on your healthcare team[16].
Life Expectancy and Outlook
Cystic fibrosis used to cause death in childhood, but survival has improved dramatically because of advances in newborn screening, medicines, nutrition, and lung transplants[2]. Nearly 40,000 children and adults in the United States and more than 100,000 worldwide are now living with cystic fibrosis[2].
Children born between 2019 and 2023 who have cystic fibrosis are expected to live an average of 61 years. On average, half of babies born in 2023 with cystic fibrosis are expected to reach the age of 68 or older[2]. Many people with cystic fibrosis are now living into their 40s, 50s, or older[1].
Quality of life and survival depend on understanding how cystic fibrosis affects health and taking steps to avoid complications. Following your treatment plan, seeing your healthcare provider regularly, avoiding infections, and finding emotional support are all important[14].
The most serious complications of cystic fibrosis are problems with the lungs, typically caused by serious lung infections. Sometimes lung problems suddenly worsen, which is called a flare-up or exacerbation[2]. Other complications can include bronchiectasis (damage to the airways), collapsed lung, malnutrition, diabetes, pancreatitis, and liver disease[14].
Despite these challenges, with proper care and treatment, people with cystic fibrosis can lead active, fulfilling lives[1][15].
