The Causes, Symptoms, and Treatment of Cystic Fibrosis

Written By: Care New England on March 11, 2022

Sometimes people have conditions that seem to have no definite diagnosis due to the atypical nature of the symptoms. Cystic fibrosis is one of those conditions.

What is Cystic Fibrosis?

Cystic fibrosis is a genetic disorder severely affecting the lungs, pancreas, digestive system, and other organs. Cystic fibrosis affects the digestive juices, sweat, and mucus-producing cells. The body secretes thin, slippery fluids that act as lubricants in healthy individuals.

However, in people with Cystic Fibrosis (CF), the secretions become thick and gummy. The gummy secretions clog up ducts, tubes, and passageways in the pancreas and lungs.

CF is a progressive disorder, and patients need daily care. This need for care does not mean they cannot do their daily business, such as work or school. With the current detection and treatment, people with CF have a longer life expectancy than in the past decades. Patients also have a better quality of life and make it to the mid to late thirties and 40s, and some make it into their 50s.

Causes of Cystic Fibrosis

A gene mutation or defect in the CFTR (the cystic fibrosis transmembrane conductance regulator) causes cystic fibrosis. The mutation causes a change in the salt regulating protein in the body, increased sweat, and thick, sticky mucus in the respiratory, reproductive, and digestive systems.

Many different mutations can happen within the gene, and the severity of the disease depends on the type of gene defect. A child must inherit one copy of this gene from each parent to get the disease. A child who inherits one copy of the gene does not develop CF. However, this does not make them safe as they carry the gene and might pass it on to their offspring.

Cystic Fibrosis Symptoms

In each state in the US, newborn screening is mandatory and a public health service. All newborns have tests done for groups of health disorders undetected at birth. Doctors do a blood test and check for hormone-related, metabolic, and rare genetic conditions. Newborn screening allows doctors to diagnose and start treatment as soon as possible.

Because of this screening, doctors can diagnose CF within the babies' first month before any cystic fibrosis symptoms develop. People born before this mandatory screening may not get a diagnosis until the symptoms develop.

CF signs and symptoms are not the same for everyone and depend on the progress of the disease. Some people may never experience any symptoms as children, only to show up in teenage or adulthood. People diagnosed in adulthood tend to have milder forms of the condition. They may have uncharacteristic symptoms such as frequent pneumonia, pancreatitis (inflamed pancreas), or infertility.

A CF patient has an unusually high salt level in their sweat. Other signs of CF affect the digestive and respiratory systems.

System Signs and Symptoms

The signs and symptoms of CF include:

  • Wheezing
  • Persistent cough with sputum (thick phlegm or mucus)
  • Intolerance to exercise
  • Recurring sinusitis
  • Recurring lung infections
  • Stuffy nose
  • Greasy and foul-smelling stool
  • Poor growth and weight gain
  • Blockage of the intestines, especially in newborns
  • Chronic constipation
  • Nasal polyps (growth)
  • Enlargement of toes and fingertips (clubbing)
  • Male infertility
  • Rectal prolapse (part of the rectum protrudes outside the anus because of constipation straining)


The treatment plans contain similar elements, but the doctors tailor them according to each person's needs. Every day, a CF patient has to complete a combination of therapies such as:

  1. Airway Clearing helps loosen and get rid of the mucus build-up in the lungs.
  2. Inhaled medication to thin the mucus and open the airways. This medication comes as a liquid and is then pressurized into an aerosol or mist. The patient inhales it via a nebulizer. The medicine includes antibiotics that keep lung infections at bay and therapy to ensure the airways stay clear.
  3. Pancreatic Enzyme Supplement that comes in capsule form and improves nutrient absorption. The patient takes the supplements with every meal. The patent also takes multivitamins every day.
  4. A personalized fitness plan improves lung function, energy, and the patient's overall health levels.
  5. CFTR modulators target the mutation in the CFTR protein.

If you suspect you or a loved one may have CF, especially people born during pre-newborn screening, see a doctor as soon as possible for tests. Ensure the doctor has experience with CF. 

Care New England offers highly trained physicians the latest medical advances and care that speaks to hearts and minds. Learn more about Pulmonary Medicine at Care New England. 

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