Diseases & Conditions


Cystic Fibrosis

Diseases & Conditions

What is cystic fibrosis?

Cystic fibrosis is an inherited disease that causes persistent lung infections and progressively limits the ability to breathe. This disease affects the cells that produce mucus causing it to be thick and sticky. Mucus will build up in the lungs and blocks the airways. The disease can also result in various obstructions of the pancreas, impeding digestion.

The incidence of cystic fibrosis varies from country to another but generally the prevalence of this disease is rare. In Europe, 1 in 2000-3000 newborns is found to develop the disease where as in the United States of America, 1 in 3500 newborns is found to be affected by cystic fibrosis.1

The prevalence of cystic fibrosis in the Middle East remains elusive. A study from King Faisal Specialist Hospital and Research Centre has estimated that 1 in 2500-5000 newborns could have cystic fibrosis in the region. This study estimated the number of cases of children affected by cystic fibrosis to be 800 to 1000 in Saudi Arabia. However, the study assumed that the prevalence could be higher due to the increased number of consanguinity in the kingdom.2

What causes cystic fibrosis?

Cystic fibrosis is a genetic disorder in which a mutation in a gene changes a protein that controls the movement of salt in and out of cells. This will cause the mucus to become thick and sticky clogging the lungs and leading to breathing problems and making it easy for bacteria to grow. A patient with cystic fibrosis can experience repeated lung infections and lung damage. Moreover, cystic fibrosis causes the sweat to become very salty. This can disturb the balance of minerals in the blood leading to many health problems.

An individual must inherit two defective cystic fibrosis genes, one from each parent, to have the disease. If a person inherits one copy of the gene from a parent, he could transfer the gene to his children but he will not develop the disease.3


What are the symptoms of cystic fibrosis?

The signs and symptoms of cystic fibrosis depend on the severity of the disease. People affected by cystic fibrosis can have a variety of symptoms affecting the respiratory, digestive and reproductive systems of the body.4

Respiratory system symptoms:

  • Persistent coughing, at times with phlegm
  • Frequent lung infections including pneumonia or bronchitis
  • Frequent bouts of infections of the sinuses
  • Frequents bouts of bronchitis and pneumonia

Digestive system symptoms:

  • Diarrhea
  • Stomach pain and discomfort
  • Frequent greasy, bulky stools or difficulty with bowel movements
  • Poor growth or weight gain in spite of a good appetite

Reproductive system symptoms:

  • Male infertility
  • Difficulty for women to get pregnant

Other symptoms:

  • Very salty-tasting skin
  • Wheezing or shortness of breath


How is cystic fibrosis diagnosed?

Many tests can be used to screen for cystic fibrosis.5

  • Sweat test: This is the most common test for cystic fibrosis in which the amount of salt is measured in the sweat. If the amount of salt is higher than the normal, this suggests that the person has cystic fibrosis.
  • Immunoreactive trypsinogen (IRT): This test is used when the sweat test does not work (in newborns for example). It consists of a blood test to search for a specific protein called trypsinogen released by the pancreas in patients affected with cystic fibrosis.
  • Genetic test: DNA samples from blood can be checked for the presence of the mutated gene responsible for cystic fibrosis.
  • Imaging tests:
    • Chest X-ray
    • Lung function tests
    • Sputum cultures


How is cystic fibrosis treated?

Currently, there is no cure for cystic fibrosis. The treatment helps to ease the symptoms, to prevent and control lung infections, remove thick and sticky mucus from the lungs, prevent or treat blockages in the intestines, provide enough nutrition to the patient and prevent dehydration.6

Treatment for lung problems:

  • Antibiotics for lung infections
  • Chest physical therapy which involves pounding the chest back repeatedly to displace the mucus from the lungs so that the patient can cough it up.
  • Exercise such as aerobic and strength training that can help loosen the mucus and improve lung functions and overall physical condition.
  • Other medications like anti-inflammatory drugs to reduce the inflammation in the lungs.
  • Oxygen therapy if the level of oxygen in the blood is too low.
  • Lung transplantation to replace one or both lungs with healthy ones.

Treatment for digestive problems:

  • Nutritional therapy including well-balanced, high-calorie diet low in fat and high in protein.
  • Medications like pancreatic enzymes to help the digestion.
  • Vitamin supplements.



  1. Genes and human disease (WHO). http://www.who.int/genomics/public/geneticdiseases/en/index2.html#CF (Accessed December 6, 2015)
  2. Banjar, Hanaa, and Gerhild Angyalosi. "The road for survival improvement of cystic fibrosis patients in Arab countries." International Journal of Pediatrics and Adolescent Medicine 2.2 (2015): 47-58.
  3. Cystic fibrosis (Causes). http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/causes/con-20013731 (Accessed December 6, 2015)
  4. How Is Cystic Fibrosis Diagnosed? (- NHLBI, NIH). http://www.nhlbi.nih.gov/health/health-topics/topics/cf/diagnosis (Accessed December 6, 2015)
  5. "Facts about Cystic Fibrosis." NATIONAL INSTITUTES OF HEALTH NATIONAL HEART, LUNG, AND BLOOD INSTITUTE. Web. http://www.cdc.gov/excite/ScienceAmbassador/ambassador_pgm/lessonplans/high_school/Am I a Carrier for Cystic Fibrosis/Cystic_Fibrosis_Fact_Sheet.pdf (Accessed December 6, 2015)
  6. How Is Cystic Fibrosis Treated? - UNM Hospitals (How Is Cystic Fibrosis Treated? - UNM Hospitals) http://hospitals.unm.edu/cf/cf_treatment.shtml (Accessed December 6, 2015)