This inherited condition causes severe damage to the lungs, digestive system and other organs. Learn about improvements in screening and treatments.
Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body.
Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with CF, a defective gene causes the secretions to become sticky and thick. Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.
Although cystic fibrosis is progressive and requires daily care, people with CF are usually able to attend school and work. They often have a better quality of life than people with CF had in previous decades. Improvements in screening and treatments mean that people with CF now may live into their mid- to late 30s or 40s, and some are living into their 50s.
In the U.S., because of newborn screening, cystic fibrosis can be diagnosed within the first month of life, before symptoms develop. But people born before newborn screening became available may not be diagnosed until the signs and symptoms of CF show up.
Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not experience symptoms until their teenage years or adulthood. People who are not diagnosed until adulthood usually have milder disease and are more likely to have atypical symptoms, such as recurring bouts of an inflamed pancreas (pancreatitis), infertility and recurring pneumonia.
People with cystic fibrosis have a higher than normal level of salt in their sweat. Parents often can taste the salt when they kiss their children. Most of the other signs and symptoms of CF affect the respiratory system and digestive system.
The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause signs and symptoms such as:
The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these digestive enzymes, your intestines aren't able to completely absorb the nutrients in the food you eat. The result is often:
If you or your child has symptoms of cystic fibrosis — or if someone in your family has CF — talk with your doctor about testing for the disease. Consult a physician who is knowledgeable about CF.
Cystic fibrosis requires consistent, regular follow-up with your doctor, at least every three months. Contact you doctor if you experience new or worsening symptoms, such as more mucus than usual or a change in the mucus color, lack of energy, weight loss, or severe constipation.
Seek immediate medical care if you're coughing up blood, have chest pain or difficulty breathing, or have severe stomach pain and distention.
In cystic fibrosis, a defect (mutation) in a gene — the cystic fibrosis transmembrane conductance regulator (CFTR) gene — changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat.
Many different defects can occur in the gene. The type of gene mutation is associated with the severity of the condition.
Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won't develop cystic fibrosis. However, they will be carriers and could pass the gene to their own children.
Because cystic fibrosis is an inherited disorder, it runs in families, so family history is a risk factor. Although CF occurs in all races, it's most common in white people of Northern European ancestry.
Complications of cystic fibrosis can affect the respiratory, digestive and reproductive systems, as well as other organs.
If you or your partner has close relatives with cystic fibrosis, you both may choose to have genetic testing before having children. The test, which is performed in a lab on a sample of blood, can help determine your risk of having a child with CF.
If you're already pregnant and the genetic test shows that your baby may be at risk of cystic fibrosis, your doctor can conduct additional tests on your developing child.
Genetic testing isn't for everyone. Before you decide to be tested, you should talk to a genetic counselor about the psychological impact the test results might carry.
To diagnose cystic fibrosis, doctors typically do a physical exam, review your symptoms and conduct several tests.
Every state in the U.S. now routinely screens newborns for cystic fibrosis. Early diagnosis means that treatment can begin immediately.
In one screening test, a blood sample is checked for higher than normal levels of a chemical called immunoreactive trypsinogen (IRT), which is released by the pancreas. A newborn's IRT levels may be high because of premature birth or a stressful delivery. For that reason, other tests may be needed to confirm a diagnosis of cystic fibrosis.
To evaluate if an infant has cystic fibrosis, doctors may also conduct a sweat test once the infant is at least 2 weeks old. A sweat-producing chemical is applied to a small area of skin. Then the sweat is collected to test it and see if it's saltier than normal. Testing done at a care center accredited by the Cystic Fibrosis Foundation helps ensure reliable results.
Doctors may also recommend genetic tests for specific defects on the gene responsible for cystic fibrosis. Genetic tests may be used in addition to checking the IRT levels to confirm the diagnosis.
Cystic fibrosis tests may be recommended for older children and adults who weren't screened at birth. Your doctor may suggest genetic and sweat tests for CF if you have recurring bouts of an inflamed pancreas, nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility.
There is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications and improve quality of life. Close monitoring and early, aggressive intervention is recommended to slow the progression of CF, which can lead to a longer life.
Managing cystic fibrosis is complex, so consider getting treatment at a center with a multispecialty team of doctors and medical professionals trained in CF to evaluate and treat your condition.
The goals of treatment include:
Options include:
For those with cystic fibrosis who have certain gene mutations, doctors may recommend cystic fibrosis transmembrane conductance regulator (CFTR) modulators. These newer medications help improve the function of the faulty CFTR protein. They may improve lung function and weight, and reduce the amount of salt in sweat.
The FDA has approved these medications for treating CF in people with one or more mutations in the CFTR gene:
Doctors may conduct liver function tests and eye exams before prescribing these medications. While taking these drugs, testing on a regular basis is needed to check for side effects such as liver function abnormalities and cataracts. Ask your doctor and pharmacist for information on possible side effects and what to watch for.
Keep regular follow-up appointments so your doctor can monitor you while taking these medications. Talk to your doctor about any side effects that you experience.
Airway clearance techniques — also called chest physical therapy (CPT) — can relieve mucus obstruction and help to reduce infection and inflammation in the airways. These techniques loosen the thick mucus in the lungs, making it easier to cough up.
Airway clearing techniques are usually done several times a day. Different types of CPT can be used to loosen and remove mucus, and a combination of techniques may be recommended.
Your doctor will instruct you on the type and frequency of chest physical therapy that's best for you.
Your doctor may recommend a long-term program that may improve your lung function and overall well-being. Pulmonary rehabilitation is usually done on an outpatient basis and may include:
Options for certain conditions caused by cystic fibrosis include:
Lung transplant. If you have severe breathing problems, life-threatening lung complications or increasing resistance to antibiotics for lung infections, lung transplantation may be an option. Because bacteria line the airways in diseases that cause permanent widening of the large airways (bronchiectasis), such as cystic fibrosis, both lungs need to be replaced.
Cystic fibrosis does not recur in transplanted lungs. However, other complications associated with CF — such as sinus infections, diabetes, pancreas conditions and osteoporosis — can still occur after a lung transplant.
You can manage your condition and minimize complications in several ways.
Cystic fibrosis can cause malnourishment because the enzymes needed for digestion can't reach your small intestine, preventing food from being absorbed. People with CF may need a much higher number of calories daily than do people without the condition.
A healthy diet is important to growth and development and to maintain good lung function. It's also important to drink lots of fluids, which can help thin the mucus in your lungs. You may work with a dietitian to develop a nutrition plan.
Your doctor may recommend:
In addition to receiving other usual childhood vaccines, people with cystic fibrosis should have the annual flu vaccine and any other vaccines their doctors recommend, such as the vaccine to prevent pneumonia. CF doesn't affect the immune system, but children with CF are more likely to develop complications when they become sick.
Regular exercise helps loosen mucus in your airways and strengthens your heart. Because people with cystic fibrosis are living longer, maintaining good cardiovascular fitness for a healthy life is important. Anything that gets you moving, including walking and biking, can help.
Don't smoke, and don't allow other people to smoke around you or your child. Secondhand smoke is harmful for everyone, but especially for people with cystic fibrosis, as is air pollution.
Teach all the members of your family to wash their hands thoroughly before eating, after using the bathroom, when coming home from work or school, and after being around a person who is sick. Hand-washing is the best way to protect against infection.
You'll have ongoing care from your doctor and other medical professionals.
If you or someone you love has cystic fibrosis, you may experience strong emotions such as depression, anxiety, anger or fear. These issues may be especially common in teens. These tips may help.
Make an appointment with your doctor if you or your child has signs or symptoms common to cystic fibrosis. After the initial evaluation, you may be referred to a doctor trained in evaluating and treating CF.
Here's some information to help you prepare for your appointment, as well as what to expect from your doctor.
You may want to prepare answers to these questions:
After getting detailed information about the symptoms and your family's medical history, your doctor may order tests to help with diagnosis and plan treatment.
November 23rd, 2021
