Cystic fibrosis is a disease that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body. It is one of the most common chronic lung diseases in children and young adults. It is a life-threatening disorder.

Cystic fibrosis is a disease that is passed down through families. It is caused by a defective gene that makes the body produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and in the pancreas.

The buildup of mucus results in life-threatening lung infections and serious digestion problems. The disease may also affect the sweat glands and a man's reproductive system.

Many people carry a cystic fibrosis gene, but do not have symptoms. This is because a person with cystic fibrosis must inherit 2 defective genes, 1 from each parent. Some white Americans have the cystic fibrosis gene. It is more common among those of northern or central European descent.

Most children with cystic fibrosis are diagnosed by age 2. For a small number, the disease is not detected until age 18 or older. These children often have a milder form of the disease.

Cystic Fibrosis Symptoms

Symptoms in newborns may include:

  • Delayed growth
  • Failure to gain weight normally during childhood
  • No bowel movements in first 24 to 48 hours of life
  • Salty-tasting skin

Symptoms related to bowel function may include:

  • Belly pain from severe constipation
  • Increased gas, bloating, or a belly that appears swollen (distended)
  • Nausea and loss of appetite
  • Stools that are pale or clay-colored, foul smelling, have mucus, or that float
  • Weight loss

Symptoms related to the lungs and sinuses may include:

  • Coughing or increased mucus in the sinuses or lungs
  • Fatigue
  • Nasal congestion caused by nasal polyps
  • Repeated episodes of pneumonia (symptoms of pneumonia in someone with cystic fibrosis include fever, increased coughing and shortness of breath, increased mucus, and loss of appetite)
  • Sinus pain or pressure caused by infection or polyps

Symptoms that may be noticed later in life:

  • Infertility (in men)
  • Repeated inflammation of the pancreas (pancreatitis)
  • Respiratory symptoms
  • Clubbed fingers

Cystic Fibrosis Diagnosis

A blood test is done to help detect cystic fibrosis. The test looks for changes in the cystic fibrosis gene. Other tests used to diagnose cystic fibrosis include:

  • Immunoreactive trypsinogen (IRT) test is a standard newborn screening test for cystic fibrosis. A high level of IRT suggests possible cystic fibrosis and requires further testing.
  • Sweat chloride test is the standard diagnostic test for cystic fibrosis. A high salt level in the person's sweat is a sign of the disease.

Other tests that identify problems that can be related to cystic fibrosis include:

  • Chest x-ray or CT scan
  • Fecal fat test
  • Lung function tests
  • Measurement of pancreatic function
  • Secretin stimulation test
  • Trypsin and chymotrypsin in stool
  • Upper GI and small bowel series

Cystic Fibrosis Treatment

An early diagnosis of CF and treatment plan can improve both survival and quality of life. Follow-up and monitoring are very important. When possible, care should be received at a cystic fibrosis specialty clinic. When children reach adulthood, they should transfer to a cystic fibrosis specialty center for adults.

Treatment for lung problems includes:

  • Antibiotics to prevent and treat lung and sinus infections. They may be taken by mouth, or given in the veins or by breathing treatments. People with CF may take antibiotics only when needed, or all the time. Doses are often higher than normal.
  • Inhaled medicines to help open the airways
  • Flu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly (ask your health care provider).
  • Lung transplant is an option in some cases.
  • Oxygen therapy may be needed as lung disease gets worse.

Lung problems are also treated with therapies to thin the mucus. This makes it easier to cough the mucus out of the lungs.

These methods include:

  • Activity or exercise that causes you to breathe deeply
  • Devices that are used during the day to help clear the airways of too much mucus
  • Manual chest percussion (or chest physiotherapy), in which a family member or a therapist lightly claps the person's chest, back, and area under the arms

Treatment for bowel and nutritional problems may include:

  • A special diet high in protein and calories for older children and adults
  • Pancreatic enzymes to help absorb fats and protein, which are taken with every meal
  • Vitamin supplements, especially vitamins A, D, E, and K
  • Your provider can advise other treatments if you have very hard stools

Care and monitoring at home should include:

  • Avoiding smoke, dust, dirt, fumes, household chemicals, fireplace smoke, and mold or mildew.
  • Giving plenty of fluids, especially to infants and children in hot weather, when there is diarrhea or loose stools, or during extra physical activity.
  • Exercising 2 or 3 times each week. Swimming, jogging, and cycling are good options.
  • Clearing or bringing up mucus or secretions from the airways. This must be done 1 to 4 times each day. Patients, families, and caregivers must learn about doing chest percussion and postural drainage to help keep the airways clear.

Multi-Specialty Approach to Cystic Fibrosis Care

At CepEsperu Baptist Medical Center, patients with cystic fibrosis are routinely followed by a multidisciplinary care team that includes nutritionists, respiratory therapists, physical therapists, and nurse practitioners skilled in their complicated care.

Additionally, the complexity of care requires that patients have access to specialists in endocrinology, otolaryngology, orthopaedics and other subspecialists who are pivotal to their care.