To diagnose cystic fibrosis, doctors may conduct several tests.
Newborn screening and diagnosis
Every state in the U.S. now routinely screens newborns for cystic fibrosis. Early diagnosis means treatment can begin immediately.
In one screening test, a blood sample is checked for higher than normal levels of a chemical (immunoreactive trypsinogen, or IRT) 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.
Genetic tests may be used in addition to checking the IRT levels to confirm the diagnosis. Doctors may also conduct genetic tests to test for specific defects on the gene responsible for cystic fibrosis.
To evaluate if an infant has cystic fibrosis, doctors may also conduct a sweat test when the infant is at least 2 weeks old. In a sweat test, doctors apply a sweat-producing chemical to a small area of skin. They then collect the sweat to test it and see if it's saltier than normal. Testing may be done at a center specializing in cystic fibrosis.
Testing of older children and adults
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 cystic fibrosis if you have recurring bouts of inflamed pancreas (pancreatitis), nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility.
There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications. Close monitoring and early, aggressive intervention is recommended. Managing cystic fibrosis is complex, so consider obtaining treatment at a center staffed by doctors and other staff trained in cystic fibrosis. Doctors may work with a multidisciplinary team of doctors and medical professionals trained in cystic fibrosis to evaluate and treat your condition.
The goals of treatment include:
- Preventing and controlling infections that occur in the lungs
- Removing and loosening mucus from the lungs
- Treating and preventing intestinal blockage
- Providing adequate nutrition
The options may include:
- Antibiotics to treat and prevent lung infections
- Anti-inflammatory medications to lessen swelling in the airways in your lungs
- Mucus-thinning drugs to help you cough up the mucus, which can improve lung function
- Inhaled medications called bronchodilators that can help keep your airways open by relaxing the muscles around your bronchial tubes
- Oral pancreatic enzymes to help your digestive tract absorb nutrients
For those with cystic fibrosis who have certain gene mutations, doctors may recommend a newer medication called ivacaftor (Kalydeco). This medication may improve lung function and weight, and reduce the amount of salt in sweat. It has been approved by the Food and Drug Administration for people with cystic fibrosis who are age 6 and older. The dose depends on your weight and age.
Doctors may conduct liver function tests and eye examinations before prescribing ivacaftor and on a regular basis while you're taking it to check for side effects such as liver function abnormalities and cataracts.
For people with a certain gene mutation who are age 12 and older, another drug (Orkambi) is available that combines ivacaftor with a medication called lumacaftor. The combination of these medications may improve lung function and reduce the risk of exacerbations. However, some people may experience side effects such as chest discomfort and shortness of breath soon after starting the medication. Some people may also have high blood pressure while taking the medication. Doctors may monitor you for any side effects.
Chest physical therapy
Loosening the thick mucus in the lungs makes it easier to cough up. Chest physical therapy helps loosen mucus. It is usually done from one to four times a day. A common technique is clapping with cupped hands on the front and back of the chest. Certain breathing techniques also may be used to help loosen the mucus. Your doctor will instruct you about the type of chest physical therapy he or she recommends for you.
Mechanical devices also can help loosen lung mucus. These include a vibrating vest or a tube or mask you breathe into.
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:
- Physical exercise that may improve your condition
- Breathing techniques that may help loosen mucus and improve breathing
- Nutritional counseling
- Counseling and support
- Education about your condition
Surgical and other procedures
- Nasal polyp removal. Your doctor may recommend surgery to remove nasal polyps that obstruct breathing.
- Oxygen therapy. If your blood oxygen level declines, your doctor may recommend that you breathe pure oxygen to prevent high blood pressure in the lungs (pulmonary hypertension).
- Endoscopy and lavage. Mucus may be suctioned from obstructed airways through an endoscope.
- Feeding tube. Cystic fibrosis interferes with digestion, so you can't absorb nutrients from food very well. Your doctor may suggest temporarily using a feeding tube to deliver extra nutrition while you sleep. This tube may be inserted in your nose and guided to your stomach, or it may be surgically implanted into the abdomen.
- Bowel surgery. If a blockage develops in your bowel, you may need surgery to remove it. Intussusception, where a section of bowel has folded in on itself, also may require surgical repair.
Lung transplant. If you have severe breathing problems, life-threatening lung complications or increasing resistance to antibiotics used to treat 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 cystic fibrosis — such as sinus infections, diabetes, pancreas problems and osteoporosis — can still occur after a lung transplant.
Lifestyle and home remedies
You can manage your condition and minimize complications in several ways. Always talk to your doctor before starting home remedies.
Pay attention to nutrition and fluid intake
Cystic fibrosis can cause malnourishment because the enzymes needed for digestion can't reach your small intestine, preventing food from being absorbed. People with cystic fibrosis may need a significantly higher number of calories daily than do people without the condition.
A healthy diet is important 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.
Most people with cystic fibrosis need to take pancreatic enzyme capsules with every meal and snack. In addition, your doctor may recommend:
- Supplemental high-calorie nutrition
- Special fat-soluble vitamins
- Extra fiber to prevent intestinal blockage
- Extra salt, especially during hot weather or before exercising
- Adequate water during hot weather
Keep immunizations up to date
In addition to other usual childhood vaccines, people with cystic fibrosis should have the annual flu vaccine and any other vaccines their doctor recommends. Cystic fibrosis doesn't affect the immune system, but children with cystic fibrosis are more likely to develop complications when they become sick.
Regular exercise helps loosen mucus in your airways, and strengthens your heart. For many people with cystic fibrosis, participating in sports can improve confidence and self-esteem. Anything that gets you moving, including walking and biking, can help.
Don't smoke in your home or car, 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.
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.
Attend medical appointments
You'll have ongoing care from your doctor and other medical professionals. Make sure to attend your regular follow-up appointments. Take your medications as prescribed and follow therapies as instructed. Contact your doctor if you experience any signs or symptoms such as severe constipation, more mucus than usual, blood in your mucus or reduced energy.
Coping and support
If you or someone you love has cystic fibrosis, you may experience strong emotions such as anger or fear. These issues are especially common in teens. Talking openly about how you feel can help. It also may help to talk with others who are dealing with the same issues.
That might mean joining a support group for parents of children with cystic fibrosis. Older children with the disorder may want to join a cystic fibrosis group to meet and talk with others who have the disease.
If you or your child is depressed or anxious, it may help to meet with a psychologist. He or she may suggest medications or other treatments as well.
Spend time with friends and family. Having their support can help you manage stress and reduce anxiety. Ask your friends or family for help if you need it.
Take time to learn about your or your child's condition. If your child has cystic fibrosis, encourage him or her to learn about the condition. Find out how medical care is managed for children with cystic fibrosis as they grow older into adulthood. Ask your child's doctor if you have questions about your child's care as he or she becomes older.
Preparing for your appointment
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 cystic fibrosis.
Here's some information to help you prepare for your appointment, as well as what to expect from your doctor.
What you can do
You may want to write a list that answers these questions:
- What symptoms are you or your child experiencing?
- When did the symptoms start, and does anything make them better or worse?
- Has anyone in your family ever had cystic fibrosis?
- Has growth been normal and weight been stable?
What to expect from your doctor
After obtaining detailed information about the symptoms and your family's medical history, your doctor may order some tests to help with diagnosis.