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Cystic fibrosis

Overview

Cystic fibrosis 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 cystic fibrosis, a defective gene causes the secretions to become sticky and thick. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.

Although cystic fibrosis requires daily care, people with the condition are usually able to attend school and work, and often have a better quality of life than people with cystic fibrosis had in previous decades. Improvements in screening and treatments mean people with cystic fibrosis now may live into their mid- to late 30s, on average, and some are living into their 40s and 50s.

Cystic fibrosis

In cystic fibrosis, the airways fill with thick, sticky mucus, making it difficult to breathe. The thick mucus is also an ideal breeding ground for bacteria and fungi.

Symptoms

Screening of newborns for cystic fibrosis is now performed in every state in the United States. As a result, the condition can be diagnosed within the first month of life, before symptoms develop. For people born before newborn screening was performed, it's important to be aware of the signs and symptoms of cystic fibrosis.

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 adolescence or adulthood.

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 cystic fibrosis affect the respiratory system and digestive system. However, adults diagnosed with cystic fibrosis are more likely to have atypical symptoms, such as recurring bouts of inflamed pancreas (pancreatitis), infertility and recurring pneumonia.

Respiratory signs and symptoms

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:

  • A persistent cough that produces thick mucus (sputum)
  • Wheezing
  • Breathlessness
  • Exercise intolerance
  • Repeated lung infections
  • Inflamed nasal passages or a stuffy nose

Digestive signs and symptoms

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:

  • Foul-smelling, greasy stools
  • Poor weight gain and growth
  • Intestinal blockage, particularly in newborns (meconium ileus)
  • Severe constipation

Frequent straining while passing stool can cause part of the rectum — the end of the large intestine — to protrude outside the anus (rectal prolapse). When this occurs in children, it may be a sign of cystic fibrosis. Parents should consult a physician knowledgeable about cystic fibrosis. Rectal prolapse in children may sometimes require surgery. Rectal prolapse in children with cystic fibrosis is less common than it was in the past, which may be due to earlier testing, diagnosis and treatment of cystic fibrosis.

When to see a doctor

If you or your child has symptoms of cystic fibrosis — or if someone in your family has cystic fibrosis — talk with your doctor about testing for the disease.

Seek immediate medical care if you or your child has difficulty breathing.

Causes

In cystic fibrosis, a defect (mutation) in a 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 possibly pass the gene to their own children.

Risk factors

  • Family history. Because cystic fibrosis is an inherited disorder, it runs in families.
  • Race. Although cystic fibrosis occurs in all races, it is most common in white people of Northern European ancestry.

Complications

Respiratory system complications

  • Damaged airways (bronchiectasis). Cystic fibrosis is one of the leading causes of bronchiectasis, a condition that damages the airways. This makes it harder to move air in and out of the lungs and clear mucus from the airways (bronchial tubes).
  • Chronic infections. Thick mucus in the lungs and sinuses provides an ideal breeding ground for bacteria and fungi. People with cystic fibrosis may often have sinus infections, bronchitis or pneumonia.
  • Growths in the nose (nasal polyps). Because the lining inside the nose is inflamed and swollen, it can develop soft, fleshy growths (polyps).
  • Coughing up blood (hemoptysis). Over time, cystic fibrosis can cause thinning of the airway walls. As a result, teenagers and adults with cystic fibrosis may cough up blood.
  • Pneumothorax. This condition, in which air collects in the space that separates the lungs from the chest wall, also is more common in older people with cystic fibrosis. Pneumothorax can cause chest pain and breathlessness.
  • Respiratory failure. Over time, cystic fibrosis can damage lung tissue so badly that it no longer works. Lung function usually worsens gradually, and it eventually can become life-threatening.
  • Acute exacerbations. People with cystic fibrosis may experience worsening of their respiratory symptoms, such as coughing and shortness of breath, for several days to weeks. This is called an acute exacerbation and requires treatment in the hospital.

Digestive system complications

  • Nutritional deficiencies. Thick mucus can block the tubes that carry digestive enzymes from your pancreas to your intestines. Without these enzymes, your body can't absorb protein, fats or fat-soluble vitamins.
  • Diabetes. The pancreas produces insulin, which your body needs to use sugar. Cystic fibrosis increases the risk of diabetes. Around 30 percent of people with cystic fibrosis develop diabetes by age 30.
  • Blocked bile duct. The tube that carries bile from your liver and gallbladder to your small intestine may become blocked and inflamed, leading to liver problems and sometimes gallstones.
  • Intestinal obstruction. Intestinal obstruction can happen to people with cystic fibrosis at all ages. Children and adults with cystic fibrosis are more likely than are infants to develop intussusception, a condition in which a section of the intestines folds in on itself like an accordion.
  • Distal intestinal obstruction syndrome (DIOS). DIOS is partial or complete obstruction where the small intestine meets the large intestine.

Reproductive system complications

Almost all men with cystic fibrosis are infertile because the tube that connects the testes and prostate gland (vas deferens) is either blocked with mucus or missing entirely. Certain fertility treatments and surgical procedures sometimes make it possible for men with cystic fibrosis to become biological fathers.

Although women with cystic fibrosis may be less fertile than other women, it's possible for them to conceive and to have successful pregnancies. Still, pregnancy can worsen the signs and symptoms of cystic fibrosis, so be sure to discuss the possible risks with your doctor.

Other complications

  • Thinning of the bones (osteoporosis). People with cystic fibrosis are at higher risk of developing a dangerous thinning of bones.
  • Electrolyte imbalances and dehydration. Because people with cystic fibrosis have saltier sweat, the balance of minerals in their blood may be upset. Signs and symptoms include increased heart rate, fatigue, weakness and low blood pressure.

Diagnosis

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.

Treatment

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

Medications

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.

Pulmonary rehabilitation

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.

Preparing for an 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.

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:

  • Antacids
  • 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.

Exercise

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.

Eliminate smoke

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.

Encourage hand-washing

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.

Prevention

If you or your partner has close relatives with cystic fibrosis, you both may want to undergo 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 cystic fibrosis.

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.

Last updated: October 13th, 2016

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