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Steady Advances Against Cystic Fibrosis

Symptoms, Diagnosis, Treatment

Organs affected by Cystic Fibrosis

Click to enlarge image
Figure A shows the organs that cystic fibrosis can affect. Figure B shows a cross-section of a normal airway. Figure C shows an airway with cystic fibrosis. The widened airway is blocked by thick, sticky mucus that contains blood and bacteria. Illustration: National Heart, Lung and Blood Institute

Symptoms

One of the first signs of CF is that a baby's skin tastes salty, or the baby doesn't pass stools when first born. Other signs occur later and vary in number, frequency, and severity from person to person. They are related to how CF affects the respiratory, digestive, or reproductive systems.

Respiratory

  • Frequent coughing that brings up thick sputum (spit) or sometimes bloody mucus.
  • Lung infections caused by a bacteria common in people with CF; such infections may be a sign of CF.
  • Frequent sinus infections.
  • Repeated bouts of bronchitis and pneumonia, leading to long-term lung damage.
  • A collapsed lung, in which buildup of air puts pressure on the lung, so it cannot expand as much as it normally does when taking a breath.
  • Widened, flabby, scarred airways. Eventually, air fails to move in and out of the lungs and the body's vital organs do not receive enough oxygen.

Digestive

  • Ongoing diarrhea or bulky, foul-smelling, greasy stools.
  • Intestinal blockages, especially in newborns; too much gas or severe constipation may cause stomach pain and discomfort.
  • Poor weight gain and growth in children because they are unable to absorb fats and proteins.
  • Pancreatitis, in which the pancreas becomes painfully inflamed.
  • Frequent coughing or difficulty passing stools may cause rectal tissue to move out of the rectum.
  • Liver disease.
  • Diabetes.
  • Gallstones.

Reproductive

Adults who have CF can expect to have normal sex lives. Although CF can cause fertility problems, men and women who have the disease should still have protected sex to avoid sexually transmitted diseases.

  • Infertility. Most men who have the disease are infertile (unable to have children). However, modern fertility treatments may help them.
  • Women with CF may have difficulty getting pregnant but can usually have children. They should consult their doctors if they're planning a pregnancy.

Other

Additional symptoms are related to an imbalance of minerals in the blood.

  • Sweat becomes very salty. As a result, large amounts are lost when you sweat. This can cause dehydration (a lack of fluid in your body), increased heart rate, fatigue (tiredness), weakness, decreased blood pressure, heat stroke, and, though rarely, death.
  • Clubbing—widening and rounding of the tips of the fingers and toes—happens late in the diseases because the lungs do not move enough oxygen into the bloodstream.
  • Low bone density also tends to occur late in CF and lead to osteoporosis.

Diagnosis

Cystic fibrosis diagnoses are based on several tests.

Newborn Screening

  • All newborns are genetically screened to see whether they have faulty CF genes. The blood is also tested to tell if their pancreas, which aids digestion, is working properly.

Sweat Test

  • The most useful way to test for CF is to measure the amount of salt in sweat; high levels confirm the disease.

Other Test

  • Chest x-ray to show whether the lungs are inflamed, scarred, or trap air.
  • Sinus x-ray to reveal sinusitis.
  • Lung function to measure how much and how fast you can breathe air in and out.
  • Arterial blood gas to test how well the lungs deliver oxygen to the blood.

Sputum culture. A sample of your sputum (spit) is tested for bacteria called mucoid Pseudomonas, indicating more advanced CF that needs aggressive treatment.

Prenatal Screening

  • Prenatal genetic sampling by amniocentesis and chorionic villus can show CF in the fetus, and chorionic villus samples tissue from the placenta to determine CF. Amniocentesis removes and tests a small amount of fluid from the sac around the baby to see whether both of the baby's CFTR genes are normal.

Cystic Fibrosis Carrier Testing

People who have one normal and one faulty CFTR gene are "carriers"—that is, they can pass faulty genes to their children but typically have no symptoms and live normal lives.

If you have a family history of CF or a partner with (or family history of) CF and you're planning a pregnancy, you may want to find out whether you are a CF carrier.

Genetic tests of blood or saliva samples can determine if you have a faulty CF gene. The tests are 90 percent accurate.


Treatment

Cystic fibrosis (CF) has no cure. Depending on severity, it may be treated in a hospital by a CF specialist. There are more than 100 CF Care Centers nationwide. They have teams of doctors, nurses, dietitians, respiratory therapists, physical therapists, and social workers specially trained in CF care.

Treatment has greatly improved in recent years. The goals are to:

  • Prevent and control lung infections
  • Loosen and remove thick, sticky mucus from the lungs
  • Prevent or treat blockages in the intestines
  • Assure sufficient nutrition
  • Prevent dehydration (lack of fluid in the body)

Lung Problems

Chest physical therapy, exercise, and medicines are the main techniques.

Chest Physical Therapy

Breathing techniques help loosen mucus and open airways. There is also chest physical therapy (CPT), also called chest clapping or percussion. It involves repeated pounding of the chest and back to loosen mucus from the lungs. You might sit with your head down or lie on your stomach to help gravity drain the mucus.

Several devices also are available to help, including:

  • An electric chest clapper, or mechanical pounder.
  • An inflatable vest that forces mucus deep in the lungs toward the upper airways for expelling.
  • A small breathing device to vibrate and dislodge the mucus.
  • A breathing mask to help break mucus loose from airway walls.

Exercise

Aerobic exercise that forces hard breathing also can help loosen mucus and improve overall physical condition. However, because CF makes sweat very salty, large amounts of salt are lost when you sweat. You may be put on a high-salt diet or salt supplements to maintain the mineral balance in your blood.

If you exercise regularly, you may be able to cut back on your CPT. But check with your healthcare provider first.

Medicines

Antibiotics, anti-inflammatory medicines, bronchodilators, or mucus-thinning medicines help to treat or prevent lung infections, reduce swelling, open up the airways, and thin mucus.

  • Oral antibiotics (taken by mouth) often are used to treat mild lung infections. Inhaled antibiotics (through the nose) fight the bacteria mucoid Pseudomonas.
  • Severe or hard-to-treat infections may be treated with antibiotics by a tube inserted into a vein. This may require a hospital stay.
  • Oral or inhaled anti-inflammatory medicines can help reduce swelling in infected airways.
  • Bronchodilators (inhaled medicines) help open the airways by relaxing the muscles around them. They are often taken just before CPT, to help clear mucus, or before inhaling other medicines into your lungs.
  • Certain people with CF may benefit from CFTR potentiator drugs that target specific CFTR gene defects to improve lung function.
  • Mucus-thinning medicines reduce stickiness and loosen mucus. This helps improve lung function, and prevent worsening symptoms.

Treatments for Advanced Lung Disease

Oxygen therapy is given through the nose for advanced lung disease. If other treatments haven't worked, a lung transplant may be an option. The diseased lung is removed through surgery and replaced with a healthy lung from a deceased donor.

Pulmonary Rehabilitation

Pulmonary rehabilitation (PR) is a broad program for improving the wellbeing of people with chronic (ongoing) breathing problems. It is used with medical therapy and may include:

  • Exercise training
  • Nutritional counseling
  • Education on your condition and how to manage it
  • Energy-conserving techniques
Read More "Cystic Fibrosis" Articles

Steady Advances Against Cystic Fibrosis / Symptoms, Diagnosis, Treatment / Living with Cystic Fibrosis / Cystic Fibrosis Research

Fall 2012 Issue: Volume 7 Number 3 Page 6-7