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Signs and Symptoms

Cystic Fibrosis, a disease that reduces one's lifespan, is characterized by symptoms such as recurrent lung infections, inflamed nasal passages, breathing difficulties, stunted growth, and digestion issues like constipation. 

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The first sign of cystic fibrosis is an intestinal blockage (called meconium ileus) and a strong, salty taste to the skin. The extent and onset of symptoms can vary among individuals, depending on the affected organs.

Causes

Cystic Fibrosis is caused as a result of a defect or mutation in the Cystic Fibrosis Transmembrane Conductance Regulator gene or CFTR gene. This causes a change in the protein responsible for regulating the flow of salt and fluids in and out of cells, resulting in thick, abnormal mucus that can block passages in the lungs, liver, and pancreas, and cause an increase in the amount of salt in sweat.

Complications

Respiratory complications

  • Damaged airways (bronchiectasis)

  • Growth in the nose (nasal polyps)

  • Pneumothorax

  • Coughing up blood (haemoptysis)

  • Respiratory failure

Digestive complications

  • Nutritional deficiencies

  • Diabetes

  • Liver cirrhosis

  • Intussusception

Other complications

  • Osteoporosis

  • Reduced fertility

  • Muscle weakness

  • Kidney stones

  • Mental health problems

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Diagnosis

  1. Pre-natal screening: A sample of amniotic fluid is taken and analyzed for genetic mutations in the fetus.

  2. Newborn screening: A small amount of blood is collected from the heel of the baby and sent to a lab for analysis.

  3. Sweat test: The test measures the level of salt produced by the body. As individuals with Cystic Fibrosis typically have higher salt concentrations, this test is considered the most definitive method for diagnosing the condition. The test involves applying a chemical called pilocarpine to the skin, followed by a small electrical stimulus to activate sweat glands, after which a small sample of sweat is collected and analyzed for chloride content.

  4. Lung function test: A spirometer is used to assess lung function, measuring the amount of air that can be inhaled and exhaled and determining if the lungs are effectively delivering oxygen to the body. Abnormal results on this test may indicate the presence of Cystic Fibrosis.

  5. Chest X-rays: The purpose of this test is to determine if there is lung swelling caused by obstructions in the respiratory passages.

  6. Genetic tests: A blood sample is obtained and analyzed for mutations in the CFTR gene.

  7. Intestinal current measurement: The patient undergoes a biopsy, and the tissue is induced to secrete chloride, which is then quantified.

Treatment

Although treatments exist to manage the symptoms, there is currently no cure for the disease.. But there are several medications and therapies that can lessen the symptoms.

Medications for CF:

  1. ​Antibiotics: Antibiotics for treating and preventing lung infections

  2. ​Anti-inflammatory medications: Includes ibuprofen, and corticosteroids.

  3. Mucus thinners: Drugs that thin mucus, such as hypertonic saline, can help you cough up the mucus, which in turn can enhance lung function.

  4. Bronchodilators: Used to relax airway muscles and improve breathing in respiratory conditions.

  5. Combination therapy: Trikafta is a new medication that combines three CFTR modulators (elexacaftor/ivacaftor/tezacaftor) to improve the function of the CFTR protein for more efficient results.

Airway clearance techniques:​ ​

  1. ​Chest therapy or percussion: This therapy involves the use of mechanical devices such as a chest clapper and an inflatable vest to loosen thick mucus in the lungs.

  2. Oscillating devices: A device that oscillates airways is utilized to make it easier to cough up mucus by loosening it.

Surgeries: 

​Cystic fibrosis or its complications may require surgery, including nasal and sinus surgery, bowel surgery, lung transplant, liver transplant, feeding tube.

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Prevention

Cystic fibrosis cannot be prevented, however, several steps can be taken to lower the risk of complications, such as:

  • Drinking ample fluids to thin mucus

  • Maintaining a nutritious diet

  • Being vaccinated

  • Engaging in regular physical activity

  • Avoiding smoking

  • Keeping hands clean to avoid infection

  • Attending all healthcare appointments.

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