Cystic Fibrosis

Jenny Ewen, BA, NREMT

What is Cystic Fibrosis?

Cystic fibrosis (CF) is a genetic disease that alters the cells producing mucus, sweat, and digestive fluid – these all become thick and sticky instead of slippery and thin. These secretions then clog pathways in the body, particularly in the lungs and pancreas.

In the lungs, the airways become clogged and bacteria gets trapped which causes infection leading to lung damage and respiratory failure over time when the damage is extensive. The pancreas is affected since the thick mucus blocks the digestive enzymes that the pancreas produces from being released to properly absorb vital nutrients. In addition, the production of insulin is reduced (which can cause a form of diabetes called cystic fibrosis-related diabetes mellitus) – these two issues with the pancreas can lead to malnutrition, less growth, and difficulty gaining and maintaining weight.

Mutations in the CFTR gene are what cause CF – this gene is responsible for creating a channel for transporting negatively charged particles (chloride ions) in and out of cells. The flow of chloride ions in cells helps guide the movement of water in tissues – this is what makes mucus within the body thin and slippery for those unaffected by CF.

Who can get CF?

Since it’s a genetic disease, those who have CF have inherited two copies of the mutated CFTR gene – this means a copy from each parent, so both parents carry at least one copy of the defective gene.

Those who only have one copy of the mutated gene gene are carriers but do not actually have the disease. When two CF carriers conceive a child, there is a 25 percent chance the child will have CF or not be a carrier and not have CF, and a 50 percent chance the child will be a carrier without CF.

There are over 1,000 mutations of the disease, and many genetic tests screen for only the common CF mutations – so the test results could say that a person who carries the CF gene is actually not a carrier due to the many mutations.

CF is a relatively common genetic disease in the US for Caucasian people – about 1 in 3,000 newborns has the disease so 1,000 new cases of CF are diagnosed every year, and more than 75 percent of those who have CF are diagnosed by the age of two. In the world, more than 70,000 people live with CF. More than half of these people are over 18.

Symptoms of CF

There are a wide range of symptoms for CF, and it can actually be diagnosed in newborns before symptoms even appear because the US screens newborns for CF. The signs and symptoms vary depending on the severity of CF, and even within the same person who has CF the symptoms can improve or get worse. Even though it’s a genetic disease present at birth, some people don’t experience any symptoms until adulthood.

Since CF affects the lungs and pancreas, the symptoms can be divided into respiratory and digestive:

Respiratory symptoms:

  • Persistent cough with sputum (thick mucus)
  • Wheezing and shortness of breath
  • Frequent bouts of pneumonia or bronchitis
  • Inability to exercise
  • Inflamed nasal passages (stuffy nose)
  • Coughing up blood
  • Pneumothorax
  • Damaged airways

Digestive symptoms:
  • Malnutrition
  • Intestinal obstructions (a portion of the intestines folds in on itself)
  • Poor growth
  • Inability to gain weight
  • Difficulty with bowel movements or frequent/greasy/foul smelling stools
  • Liver disease caused by mucus blocking the bile duct

Other signs and symptoms:
  • Infertility (particularly for men)
  • Osteoporosis
  • Electrolyte imbalances/dehydration due to salty sweat
  • Salty-tasting skin

Treatment for CF

Due to research and new treatments, the disease that used to be known as a fatal childhood disease now has people living well into adulthood. Many people who have CF are able to manage their symptoms to lead productive lives; however, there is still no cure. Treatment involves helping symptoms and attempting to reduce complications from the disease and ensure adequate nutrition.

Some treatments and procedures used to ease the symptoms of CF include:

  • Airway clearance techniques (to loosen up the mucus so it can be cleared with coughing)
  • CFTR modulator therapies (created to correct the improper function made by the CF gene – but this is only for those with certain mutations)
  • Medications, including: antibiotics, anti-inflammatories, mucus thinners, bronchodilators, oral pancreatic enzymes (to help with absorbing nutrients from food)
  • Oxygen therapy
  • Feeding tube
  • Lung transplant

CF can also be helped with lifestyle changes, including drinking lots of fluids, eating a high calories diet that may include supplemental vitamins, fiber, and salt, keeping immunizations and vaccines up to date, exercise (as able to), don’t smoke or be around secondhand smoke, and frequent hand washing to avoid germs.

CF and EMS

It’s very likely that someone with CF will need medical attention that may include 911 calls and ER visits. It’s important to check their oxygen levels and clear their airway if mucus has built up – maintaining the airway is always a priority with every patient, and it’s important to take extra care for patients who tell you they have CF.

Sources and More Information

Cystic Fibrosis Foundation, “About Cystic Fibrosis” “Treatments and Therapies”

Mayo Clinic, “Cystic fibrosis”

U.S. National Library of Medicine, Genetics Home Reference, “Cystic Fibrosis”

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