Cystic Fibrosis

What is cystic fibrosis?

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Cystic fibrosis is a progressive genetic disease. Frequent lung infections cause the condition to develop. As a result, cystic fibrosis will inevitably limit a person’s ability to breathe. Those living with cystic fibrosis are born with the condition. They experience mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. These mutations result in the CFTR protein becoming dysfunctional. This, in turn, causes the mucus in numerous organs is thick and sticky. This build-up can render organs inefficient, limiting oxygen absorption.

People living with cystic fibrosis often experience shorter-than-usual lifespans. As a result, it is critical that those with the condition see a pulmonologist regularly. Prompt and proper treatment is essential to a positive prognosis.

What causes cystic fibrosis?

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Cystic fibrosis is a genetic condition. A recessive gene is responsible for causing cystic fibrosis. Therefore, children who have cystic fibrosis inherited a copy of the gene from each parent. So, if the child only inherits a single gene, the child will not develop cystic fibrosis. This means that the child can potentially pass the gene on to their own offspring since they would be a carrier.

What are symptoms of cystic fibrosis?

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There are a number of symptoms for people with cystic fibrosis. These symptoms can include:

  • Skin: People with cystic fibrosis can have extremely salty-tasting skin.
  • Coughing: Frequent and lasting coughing can sometimes include phlegm. Wheezing or shortness of breath are also common occurrences.
  • Lung infections: These can occur frequently, and often include pneumonia or bronchitis.
  • Growth: Poor growth or the inability to gain weight is common. These symptoms can occur in spite of the individual having a healthy appetite.
  • Irregular bowel movements: If you have frequently greasy or bulky stools, it may be a symptom of cystic fibrosis. General difficulty with passing bowel movements may also be a symptom of the disease.
  • Male infertility: Data show that 97-98% of men with cystic fibrosis are infertile. Even so, assisted reproductive technology (ART) can assist men in having biological children.

Are there any risk factors or groups for cystic fibrosis?

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Cystic fibrosis can affect both men and women. There are approximately 30,000 people in the United States who live with a cystic fibrosis diagnosis. Family history is the highest risk factor for those who develop the condition. If either parent is a known carrier of the gene, the child may be born with cystic fibrosis. However, they will only develop the condition if they inherit the gene from both parents.

Cystic fibrosis is not limited to affecting any one ethnicity. Still, it is found to be largely common in Caucasian individuals of northern European descent. Those who are carriers of the cystic fibrosis gene are generally healthy. Similarly, many do not experience symptoms of cystic fibrosis. A lack of symptoms does not mean the gene cannot be passed on to children. As many as 10 million people may be carriers of the gene without being aware of it. Ultimately, each pregnancy has a 25% chance of yielding a child with cystic fibrosis if the parents carry the required gene.

How is cystic fibrosis diagnosed?

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There are specific requirements to properly diagnose cystic fibrosis. First, a physician will need to observe clinical symptoms. These symptoms must be consistent with cystic fibrosis in one organ, at the minimum. There must also be evidence of CFTR dysfunction. It is typically based on an abnormal sweat chloride test. However, the appearance of mutations in the CFTR gene also allows for a diagnosis of cystic fibrosis.

For infants undergoing a newborn screening, clinical symptoms are not required. The other diagnostic tests for cystic fibrosis can include:

  • Immunoreactive trypsinogen (IRT) test: The test is common for a newborn screening test. It checks for any abnormal levels of the protein known as IRT in the blood. Higher levels of IRT may indicate cystic fibrosis. The test is only the first phase and additional testing is needed for an undisputed diagnosis.
  • Sweat chloride test: It is the most common test when diagnosing cystic fibrosis. The test identifies if there are increased levels of salt in the sweat. A doctor administers the test by using a chemical to make the skin sweat. Then, once the sweat is gathered on a pad, the doctor can analyze the saltiness of the sweat.
  • Sputum test: The doctor collects a sample of mucus during the test. The sample can confirm whether the individual has a lung infection. The test also helps the doctor see which germs are present. By doing so, the doctor can prescribe the best antibiotics that will effectively treat the infection.
  • Chest X-ray: The procedure is highly useful. The X-ray can show if there is swelling in the individual’s lungs. The swelling will also reveal if it is due to blockages in any of the respiratory passages.
  • CT scan: The scan presents X-ray images of the body from different angles and positions. The doctor can observe internal structures like the liver and pancreas. Observing these organs makes it possible for the doctor to determine any organ damage, as well as the extent to which there is damage caused by cystic fibrosis.
  • Pulmonary function tests (PFTs): The tests conclude whether an individual’s lungs are in proper working condition. More specifically, the tests measure the amount of air that can be inhaled or exhaled. It also indicates the lungs’ capability in transporting oxygen throughout the body. If there are abnormalities, the test can reveal if cystic fibrosis is the underlying cause of the dysfunction.

How is cystic fibrosis treated?

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Cystic fibrosis is not currently curable. Nonetheless, there are a number of treatments that can make living with the disease more manageable. Medication is one of the primary ways to ease the symptoms of cystic fibrosis. The types of medicine can include:

  • Antibiotics: These can eliminate lung infections. Antibiotics also help prevent future infections. These can be taken in the form of liquids, tablets or capsules. Injections and/or infusions are also administered in more severe cases.
  • Mucus-thinning medications: These help make mucus less sticky. Additionally, they assist in helping you cough up the mucus to clear your airway. Overall, the medicine notably improves lung function.
  • Nonsteroidal anti-inflammatory drugs (NSAIDs): Ibuprofen (Advil) can reduce airway inflammation. High-dose ibuprofen is advised for children ages six through 17. These recommendations are for children with good lung function. It should not be taken by those with greater lung function abnormalities or those who are older than 18.
  • Bronchodilators: These relax the muscles around the airway tubes. They help increase airflow. The medication is taken through either an inhaler or a nebulizer.
  • Cystic fibrosis transmembrane conductance regulator (CFTR) modulators: The class of drugs help improve the function of the defective CFTR gene. The drugs are representative of the progress in treatment. They focus on the function of the mutant gene instead of its clinical consequences.

Does cystic fibrosis require surgery?

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Alternative treatment for cystic fibrosis is undergoing a surgical procedure. These procedures can include:

  • Bowel surgery: It is considered an emergency surgery for cystic fibrosis. It calls for the removal of a portion of the bowel. Removing a section can be done in an effort to help relieve bowel blockages.
  • Feeding tube: Cystic fibrosis can cause digestion complications. It may also prevent the absorption of food nutrients. A feeding tube that is passed through the nose can help to supply nutrition. Another method is surgically inserting the feeding tube into the stomach.
  • Double-lung transplant: The procedure is a last resort for those with cystic fibrosis. Doctors do the procedure when medical management is no longer effective for lung health. The procedure ideally improves the length and quality of life for the patient.

For a less invasive procedure, you can also undergo chest physical therapy. The therapy helps loosen mucus that has thickened in the lungs. The chest therapy is often performed anywhere from one to four times per day.

Should you see a doctor for cystic fibrosis?

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It is important to see a doctor if cystic fibrosis symptoms arise or persist. Most importantly, you should know which doctors and specialists to speak to about any diagnosis. Given the complex nature of the disease, health care professionals will recommend a diverse team. Since cystic fibrosis can affect different areas of the body, the team members can include a:

  • Dietitian
  • Nurse, nurse practitioner, or physician assistant
  • Pulmonologist or lung specialist
  • Program coordinator
  • Respiratory therapist
  • Social worker
  • Pharmacist
  • Physical therapist
  • Psychologist
  • Research coordinator

What is the outlook for people living with cystic fibrosis?

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The outlook for those living with cystic fibrosis has vastly improved over the decades. Prior cases saw those with cystic fibrosis typically not living past grade school. However, a steady rise in therapies improved the outlook for many patients. Today, individuals with cystic fibrosis can live into their 40’s and 50’s, or sometimes longer.

Even so, the average lifespan is still shorter than ideal. Ultimately, the decline of one’s lung function greatly affects the individual, causing them to become disabled. Lung complications generally result in the cause of death for those with cystic fibrosis. Therefore, focusing any therapies on the lung region is crucial to further extend the lives of those with cystic fibrosis.